Canonical Allele Identifier: CA368845418
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2637453
ClinVar RCV Id: RCV003404751
MyVariant Identifiers: chr7:g.107350500T>G (hg19) chr7:g.107710055T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710055T>G , CM000669.2:g.107710055T>G GRCh38
NC_000007.13:g.107350500T>G , CM000669.1:g.107350500T>G GRCh37
NC_000007.12:g.107137736T>G NCBI36
NG_008489.1:g.54421T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2091T>G MANE Select ENSP00000494017.1:p.Asp697Glu
ENST00000644846.1:c.747T>G
ENST00000265715.7:c.2091T>G ENSP00000265715.3:p.Asp697Glu
ENST00000492030.2:n.377-100T>G
NM_000441.1:c.2091T>G NP_000432.1:p.Asp697Glu
XM_005250425.1:c.2091T>G XP_005250482.1:p.Asp697Glu
XM_005250425.2:c.2091T>G XP_005250482.1:p.Asp697Glu
XM_017012318.1:c.2013T>G XP_016867807.1:p.Asp671Glu
NM_000441.2:c.2091T>G MANE Select NP_000432.1:p.Asp697Glu
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