Canonical Allele Identifier: CA772274357

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 889212
• ClinVar RCV Id: RCV001123012 ; RCV001124072 ; RCV001124073
• dbSNP Id: rs1174269872
• gnomAD v3: 17-44249713-C-T
• gnomAD v4: 17-44249713-C-T
• MyVariant Identifiers: chr17:g.42327081C>T (hg19) ; chr17:g.44249713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249713C>T , CM000679.2:g.44249713C>T	GRCh38
NC_000017.10:g.42327081C>T , CM000679.1:g.42327081C>T	GRCh37
NC_000017.9:g.39682607C>T	NCBI36
NG_007498.1:g.23422G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*745G>A MANE Select	ENSP00000262418.6:n.*745G>A
ENST00000262418.10:c.*745G>A	ENSP00000262418.6:n.*745G>A
ENST00000399246.3:c.*745G>A	ENSP00000382190.3:n.*745G>A
ENST00000631130.1:c.-463G>A	ENSP00000486787.1:n.-463G>A
NM_000342.3:c.*745G>A	NP_000333.1:n.*745G>A
XM_005257593.3:c.*745G>A	XP_005257650.1:n.*745G>A
XM_011525129.1:c.*745G>A	XP_011523431.1:n.*745G>A
XM_005257593.5:c.*745G>A	XP_005257650.1:n.*745G>A
XM_011525129.2:c.*745G>A	XP_011523431.1:n.*745G>A
NM_000342.4:c.*745G>A MANE Select	NP_000333.1:n.*745G>A