Canonical Allele Identifier: CA4433067
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs746331884
ExAC: 7:107350592 A / G
gnomAD v2: 7-107350592-A-G
gnomAD v4: 7-107710147-A-G
MyVariant Identifiers: chr7:g.107350592A>G (hg19) chr7:g.107710147A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710147A>G , CM000669.2:g.107710147A>G GRCh38
NC_000007.13:g.107350592A>G , CM000669.1:g.107350592A>G GRCh37
NC_000007.12:g.107137828A>G NCBI36
NG_008489.1:g.54513A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2183A>G MANE Select ENSP00000494017.1:p.Tyr728Cys
ENST00000644846.1:c.839A>G
ENST00000265715.7:c.2183A>G ENSP00000265715.3:p.Tyr728Cys
ENST00000492030.2:n.377-8A>G
NM_000441.1:c.2183A>G NP_000432.1:p.Tyr728Cys
XM_005250425.1:c.2183A>G XP_005250482.1:p.Tyr728Cys
XM_005250425.2:c.2183A>G XP_005250482.1:p.Tyr728Cys
XM_017012318.1:c.2105A>G XP_016867807.1:p.Tyr702Cys
NM_000441.2:c.2183A>G MANE Select NP_000432.1:p.Tyr728Cys
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