Canonical Allele Identifier: CA4432977
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs142104908
ExAC: 7:107342369 T / C
gnomAD v2: 7-107342369-T-C
gnomAD v3: 7-107701924-T-C
gnomAD v4: 7-107701924-T-C
MyVariant Identifiers: chr7:g.107342369T>C (hg19) chr7:g.107342369_107342371delinsCAG (hg19) chr7:g.107701924T>C (hg38) chr7:g.107701924_107701926delinsCAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701924T>C , CM000669.2:g.107701924T>C GRCh38
NC_000007.13:g.107342369T>C , CM000669.1:g.107342369T>C GRCh37
NC_000007.12:g.107129605T>C NCBI36
NG_008489.1:g.46290T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1901T>C MANE Select ENSP00000494017.1:p.Ile634Thr
ENST00000644846.1:c.612T>C
ENST00000265715.7:c.1901T>C ENSP00000265715.3:p.Ile634Thr
ENST00000492030.2:n.188T>C
NM_000441.1:c.1901T>C NP_000432.1:p.Ile634Thr
XM_005250425.1:c.1901T>C XP_005250482.1:p.Ile634Thr
XM_005250425.2:c.1901T>C XP_005250482.1:p.Ile634Thr
XM_017012318.1:c.1823T>C XP_016867807.1:p.Ile608Thr
NM_000441.2:c.1901T>C MANE Select NP_000432.1:p.Ile634Thr
Search 100 bp 5'
Search 100 bp 3'