Canonical Allele Identifier: CA368848414

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1367866295
• gnomAD v4: 7-107674334-G-T
• MyVariant Identifiers: chr7:g.107314779G>T (hg19) ; chr7:g.107674334G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107674334G>T , CM000669.2:g.107674334G>T	GRCh38
NC_000007.13:g.107314779G>T , CM000669.1:g.107314779G>T	GRCh37
NC_000007.12:g.107102015G>T	NCBI36
NG_008489.1:g.18700G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.586G>T MANE Select	ENSP00000494017.1:p.Val196Phe
ENST00000265715.7:c.586G>T	ENSP00000265715.3:p.Val196Phe
NM_000441.1:c.586G>T	NP_000432.1:p.Val196Phe
XM_005250425.1:c.586G>T	XP_005250482.1:p.Val196Phe
XM_006716025.2:c.586G>T	XP_006716088.1:p.Val196Phe
XM_005250425.2:c.586G>T	XP_005250482.1:p.Val196Phe
XM_006716025.3:c.586G>T	XP_006716088.1:p.Val196Phe
XM_017012318.1:c.586G>T	XP_016867807.1:p.Val196Phe
NM_000441.2:c.586G>T MANE Select	NP_000432.1:p.Val196Phe