Canonical Allele Identifier: CA4432567

Gene: SLC26A4

Linked Data

• dbSNP Id: rs752708912
• ExAC: 7:107315604 C / A
• gnomAD v2: 7-107315604-C-A
• gnomAD v4: 7-107675159-C-A
• MyVariant Identifiers: chr7:g.107315604C>A (hg19) ; chr7:g.107675159C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107675159C>A , CM000669.2:g.107675159C>A	GRCh38
NC_000007.13:g.107315604C>A , CM000669.1:g.107315604C>A	GRCh37
NC_000007.12:g.107102840C>A	NCBI36
NG_008489.1:g.19525C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.765+50C>A MANE Select	ENSP00000494017.1:n.765+50C>A
ENST00000265715.7:c.765+50C>A	ENSP00000265715.3:n.765+50C>A
NM_000441.1:c.765+50C>A	NP_000432.1:n.765+50C>A
XM_005250425.1:c.765+50C>A	XP_005250482.1:n.765+50C>A
XM_006716025.2:c.765+50C>A	XP_006716088.1:n.765+50C>A
XM_005250425.2:c.765+50C>A	XP_005250482.1:n.765+50C>A
XM_006716025.3:c.765+50C>A	XP_006716088.1:n.765+50C>A
XM_017012318.1:c.765+50C>A	XP_016867807.1:n.765+50C>A
NM_000441.2:c.765+50C>A MANE Select	NP_000432.1:n.765+50C>A