Canonical Allele Identifier: CA261425
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43541
ClinVar RCV Id: RCV000036476 RCV000585409 RCV000675123 RCV002051802
dbSNP Id: rs397516427
ExAC: 7:107350554 G / T
gnomAD v2: 7-107350554-G-T
gnomAD v3: 7-107710109-G-T
gnomAD v4: 7-107710109-G-T
MyVariant Identifiers: chr7:g.107350554G>T (hg19) chr7:g.107710109G>T (hg38)
PubMed: PMID:19287372 PMID:19509082
ERepo: CA261425/MONDO:0010134/005
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710109G>T , CM000669.2:g.107710109G>T GRCh38
NC_000007.13:g.107350554G>T , CM000669.1:g.107350554G>T GRCh37
NC_000007.12:g.107137790G>T NCBI36
NG_008489.1:g.54475G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2145G>T MANE Select ENSP00000494017.1:p.Lys715Asn
ENST00000644846.1:c.801G>T
ENST00000265715.7:c.2145G>T ENSP00000265715.3:p.Lys715Asn
ENST00000492030.2:n.377-46G>T
NM_000441.1:c.2145G>T NP_000432.1:p.Lys715Asn
XM_005250425.1:c.2145G>T XP_005250482.1:p.Lys715Asn
XM_005250425.2:c.2145G>T XP_005250482.1:p.Lys715Asn
XM_017012318.1:c.2067G>T XP_016867807.1:p.Lys689Asn
NM_000441.2:c.2145G>T MANE Select NP_000432.1:p.Lys715Asn
Search 100 bp 5'
Search 100 bp 3'