Canonical Allele Identifier: CA164232416
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs144017357
gnomAD v3: 7-107716001-T-C
gnomAD v4: 7-107716001-T-C
MyVariant Identifiers: chr7:g.107356446T>C (hg19) chr7:g.107716001T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107716001T>C , CM000669.2:g.107716001T>C GRCh38
NC_000007.13:g.107356446T>C , CM000669.1:g.107356446T>C GRCh37
NC_000007.12:g.107143682T>C NCBI36
NG_008489.1:g.60367T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.*555T>C MANE Select ENSP00000494017.1:n.*555T>C
ENST00000644846.1:c.1554T>C
ENST00000265715.7:c.*555T>C ENSP00000265715.3:n.*555T>C
NM_000441.1:c.*555T>C NP_000432.1:n.*555T>C
XM_005250425.2:c.*555T>C XP_005250482.1:n.*555T>C
XM_017012318.1:c.*555T>C XP_016867807.1:n.*555T>C
NM_000441.2:c.*555T>C MANE Select NP_000432.1:n.*555T>C
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