Canonical Allele Identifier: CA368845431
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 446451
ClinVar RCV Id: RCV000515721
dbSNP Id: rs1554352676
gnomAD v4: 7-107663357-C-T
MyVariant Identifiers: chr7:g.107303802C>T (hg19) chr7:g.107663357C>T (hg38)
PubMed: PMID:24105851
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107663357C>T , CM000669.2:g.107663357C>T GRCh38
NC_000007.13:g.107303802C>T , CM000669.1:g.107303802C>T GRCh37
NC_000007.12:g.107091038C>T NCBI36
NG_008489.1:g.7723C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.226C>T MANE Select ENSP00000494017.1:p.Pro76Ser
ENST00000265715.7:c.226C>T ENSP00000265715.3:p.Pro76Ser
ENST00000440056.1:c.226C>T ENSP00000394760.1:p.Pro76Ser
NM_000441.1:c.226C>T NP_000432.1:p.Pro76Ser
XM_005250425.1:c.226C>T XP_005250482.1:p.Pro76Ser
XM_006716025.2:c.226C>T XP_006716088.1:p.Pro76Ser
XM_005250425.2:c.226C>T XP_005250482.1:p.Pro76Ser
XM_006716025.3:c.226C>T XP_006716088.1:p.Pro76Ser
XM_017012318.1:c.226C>T XP_016867807.1:p.Pro76Ser
NM_000441.2:c.226C>T MANE Select NP_000432.1:p.Pro76Ser
Search 100 bp 5'
Search 100 bp 3'