Canonical Allele Identifier: CA772278631

Gene: SLC4A1

Linked Data

• dbSNP Id: rs1250288416
• gnomAD v3: 17-44254207-C-T
• gnomAD v4: 17-44254207-C-T
• MyVariant Identifiers: chr17:g.42331575C>T (hg19) ; chr17:g.44254207C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254207C>T , CM000679.2:g.44254207C>T	GRCh38
NC_000017.10:g.42331575C>T , CM000679.1:g.42331575C>T	GRCh37
NC_000017.9:g.39687101C>T	NCBI36
NG_007498.1:g.18928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+289G>A MANE Select	ENSP00000262418.6:n.2057+289G>A
ENST00000262418.10:c.2057+289G>A	ENSP00000262418.6:n.2057+289G>A
ENST00000399246.3:c.959+289G>A	ENSP00000382190.3:n.959+289G>A
NM_000342.3:c.2057+289G>A	NP_000333.1:n.2057+289G>A
XM_005257593.3:c.1862+289G>A	XP_005257650.1:n.1862+289G>A
XM_011525129.1:c.1967+289G>A	XP_011523431.1:n.1967+289G>A
XM_011525130.1:c.2057+289G>A	XP_011523432.1:n.2057+289G>A
XM_011525131.1:c.2057+289G>A	XP_011523433.1:n.2057+289G>A
XM_005257593.5:c.1862+289G>A	XP_005257650.1:n.1862+289G>A
XM_011525129.2:c.1967+289G>A	XP_011523431.1:n.1967+289G>A
NM_000342.4:c.2057+289G>A MANE Select	NP_000333.1:n.2057+289G>A