Canonical Allele Identifier: CA368839139

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1194210245
• gnomAD v4: 7-107690139-G-A
• COSMIC: COSM4794017
• MyVariant Identifiers: chr7:g.107330584G>A (hg19) ; chr7:g.107690139G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107690139G>A , CM000669.2:g.107690139G>A	GRCh38
NC_000007.13:g.107330584G>A , CM000669.1:g.107330584G>A	GRCh37
NC_000007.12:g.107117820G>A	NCBI36
NG_008489.1:g.34505G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1165G>A MANE Select	ENSP00000494017.1:p.Gly389Arg
ENST00000265715.7:c.1165G>A	ENSP00000265715.3:p.Gly389Arg
NM_000441.1:c.1165G>A	NP_000432.1:p.Gly389Arg
XM_005250425.1:c.1165G>A	XP_005250482.1:p.Gly389Arg
XM_006716025.2:c.1165G>A	XP_006716088.1:p.Gly389Arg
XM_005250425.2:c.1165G>A	XP_005250482.1:p.Gly389Arg
XM_006716025.3:c.1165G>A	XP_006716088.1:p.Gly389Arg
XM_017012318.1:c.1165G>A	XP_016867807.1:p.Gly389Arg
NM_000441.2:c.1165G>A MANE Select	NP_000432.1:p.Gly389Arg