Canonical Allele Identifier: CA261403
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43498
ClinVar RCV Id: RCV000036430 RCV000268093 RCV000576483 RCV000515696 RCV000824770 RCV001291347
dbSNP Id: rs111033220
ExAC: 7:107330648 C / T
gnomAD v2: 7-107330648-C-T
gnomAD v3: 7-107690203-C-T
gnomAD v4: 7-107690203-C-T
COSMIC: COSM3381756
MyVariant Identifiers: chr7:g.107330648C>T (hg19) chr7:g.107690203C>T (hg38)
PubMed: PMID:9618167 PMID:10700480 PMID:11317356 PMID:11919333 PMID:11932316 PMID:12112665 PMID:12676893 PMID:15355436 PMID:15747138 PMID:15811013 PMID:15933521 PMID:16283880 PMID:16570074 PMID:16950989 PMID:17309986 PMID:17718863 PMID:19040761 PMID:19509082 PMID:19786220 PMID:21961810 PMID:24105851 PMID:24224479
ERepo: CA261403/MONDO:0010134/005
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107690203C>T , CM000669.2:g.107690203C>T GRCh38
NC_000007.13:g.107330648C>T , CM000669.1:g.107330648C>T GRCh37
NC_000007.12:g.107117884C>T NCBI36
NG_008489.1:g.34569C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1229C>T MANE Select ENSP00000494017.1:p.Thr410Met
ENST00000265715.7:c.1229C>T ENSP00000265715.3:p.Thr410Met
NM_000441.1:c.1229C>T NP_000432.1:p.Thr410Met
XM_005250425.1:c.1229C>T XP_005250482.1:p.Thr410Met
XM_006716025.2:c.1229C>T XP_006716088.1:p.Thr410Met
XM_005250425.2:c.1229C>T XP_005250482.1:p.Thr410Met
XM_006716025.3:c.1229C>T XP_006716088.1:p.Thr410Met
XM_017012318.1:c.1229C>T XP_016867807.1:p.Thr410Met
NM_000441.2:c.1229C>T MANE Select NP_000432.1:p.Thr410Met
Search 100 bp 5'
Search 100 bp 3'