Canonical Allele Identifier: CA984004614

Gene: SLC4A1

Linked Data

• dbSNP Id: rs2144604591
• gnomAD v3: 17-44254469-A-C
• gnomAD v4: 17-44254469-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254469A>C , CM000679.2:g.44254469A>C	GRCh38
NC_000017.10:g.42331837A>C , CM000679.1:g.42331837A>C	GRCh37
NC_000017.9:g.39687363A>C	NCBI36
NG_007498.1:g.18666T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+27T>G MANE Select	ENSP00000262418.6:n.2057+27T>G
ENST00000262418.10:c.2057+27T>G	ENSP00000262418.6:n.2057+27T>G
ENST00000399246.3:c.959+27T>G	ENSP00000382190.3:n.959+27T>G
NM_000342.3:c.2057+27T>G	NP_000333.1:n.2057+27T>G
XM_005257593.3:c.1862+27T>G	XP_005257650.1:n.1862+27T>G
XM_011525129.1:c.1967+27T>G	XP_011523431.1:n.1967+27T>G
XM_011525130.1:c.2057+27T>G	XP_011523432.1:n.2057+27T>G
XM_011525131.1:c.2057+27T>G	XP_011523433.1:n.2057+27T>G
XM_005257593.5:c.1862+27T>G	XP_005257650.1:n.1862+27T>G
XM_011525129.2:c.1967+27T>G	XP_011523431.1:n.1967+27T>G
NM_000342.4:c.2057+27T>G MANE Select	NP_000333.1:n.2057+27T>G