Canonical Allele Identifier: CA368845501
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 691518
ClinVar RCV Id: RCV001004650
dbSNP Id: rs1584344549
gnomAD v4: 7-107710072-T-C
MyVariant Identifiers: chr7:g.107350517T>C (hg19) chr7:g.107710072T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710072T>C , CM000669.2:g.107710072T>C GRCh38
NC_000007.13:g.107350517T>C , CM000669.1:g.107350517T>C GRCh37
NC_000007.12:g.107137753T>C NCBI36
NG_008489.1:g.54438T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2108T>C MANE Select ENSP00000494017.1:p.Leu703Pro
ENST00000644846.1:c.764T>C
ENST00000265715.7:c.2108T>C ENSP00000265715.3:p.Leu703Pro
ENST00000492030.2:n.377-83T>C
NM_000441.1:c.2108T>C NP_000432.1:p.Leu703Pro
XM_005250425.1:c.2108T>C XP_005250482.1:p.Leu703Pro
XM_005250425.2:c.2108T>C XP_005250482.1:p.Leu703Pro
XM_017012318.1:c.2030T>C XP_016867807.1:p.Leu677Pro
NM_000441.2:c.2108T>C MANE Select NP_000432.1:p.Leu703Pro
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Search 100 bp 3'