Canonical Allele Identifier: CA4432387

Gene: SLC26A4

Linked Data

• dbSNP Id: rs756009720
• ExAC: 7:107303755 G / T
• gnomAD v2: 7-107303755-G-T
• gnomAD v3: 7-107663310-G-T
• gnomAD v4: 7-107663310-G-T
• MyVariant Identifiers: chr7:g.107303755G>T (hg19) ; chr7:g.107663310G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107663310G>T , CM000669.2:g.107663310G>T	GRCh38
NC_000007.13:g.107303755G>T , CM000669.1:g.107303755G>T	GRCh37
NC_000007.12:g.107090991G>T	NCBI36
NG_008489.1:g.7676G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.179G>T MANE Select	ENSP00000494017.1:p.Arg60Ile
ENST00000265715.7:c.179G>T	ENSP00000265715.3:p.Arg60Ile
ENST00000440056.1:c.179G>T	ENSP00000394760.1:p.Arg60Ile
NM_000441.1:c.179G>T	NP_000432.1:p.Arg60Ile
XM_005250425.1:c.179G>T	XP_005250482.1:p.Arg60Ile
XM_006716025.2:c.179G>T	XP_006716088.1:p.Arg60Ile
XM_005250425.2:c.179G>T	XP_005250482.1:p.Arg60Ile
XM_006716025.3:c.179G>T	XP_006716088.1:p.Arg60Ile
XM_017012318.1:c.179G>T	XP_016867807.1:p.Arg60Ile
NM_000441.2:c.179G>T MANE Select	NP_000432.1:p.Arg60Ile