Canonical Allele Identifier: CA4432965
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1528590
ClinVar RCV Id: RCV002096808
dbSNP Id: rs761625957
ExAC: 7:107342274 T / C
gnomAD v2: 7-107342274-T-C
gnomAD v3: 7-107701829-T-C
gnomAD v4: 7-107701829-T-C
MyVariant Identifiers: chr7:g.107342274T>C (hg19) chr7:g.107701829T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701829T>C , CM000669.2:g.107701829T>C GRCh38
NC_000007.13:g.107342274T>C , CM000669.1:g.107342274T>C GRCh37
NC_000007.12:g.107129510T>C NCBI36
NG_008489.1:g.46195T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1806T>C MANE Select ENSP00000494017.1:p.Asn602=
ENST00000644846.1:c.517T>C
ENST00000265715.7:c.1806T>C ENSP00000265715.3:p.Asn602=
ENST00000480841.5:n.655T>C
ENST00000492030.2:n.93T>C
NM_000441.1:c.1806T>C NP_000432.1:p.Asn602=
XM_005250425.1:c.1806T>C XP_005250482.1:p.Asn602=
XM_005250425.2:c.1806T>C XP_005250482.1:p.Asn602=
XM_017012318.1:c.1728T>C XP_016867807.1:p.Asn576=
NM_000441.2:c.1806T>C MANE Select NP_000432.1:p.Asn602=
Search 100 bp 5'
Search 100 bp 3'