Canonical Allele Identifier: CA984004550

Gene: SLC4A1

Linked Data

• dbSNP Id: rs2047368102
• gnomAD v3: 17-44254180-T-A
• gnomAD v4: 17-44254180-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254180T>A , CM000679.2:g.44254180T>A	GRCh38
NC_000017.10:g.42331548T>A , CM000679.1:g.42331548T>A	GRCh37
NC_000017.9:g.39687074T>A	NCBI36
NG_007498.1:g.18955A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+316A>T MANE Select	ENSP00000262418.6:n.2057+316A>T
ENST00000262418.10:c.2057+316A>T	ENSP00000262418.6:n.2057+316A>T
ENST00000399246.3:c.959+316A>T	ENSP00000382190.3:n.959+316A>T
NM_000342.3:c.2057+316A>T	NP_000333.1:n.2057+316A>T
XM_005257593.3:c.1862+316A>T	XP_005257650.1:n.1862+316A>T
XM_011525129.1:c.1967+316A>T	XP_011523431.1:n.1967+316A>T
XM_011525130.1:c.2057+316A>T	XP_011523432.1:n.2057+316A>T
XM_011525131.1:c.2057+316A>T	XP_011523433.1:n.2057+316A>T
XM_005257593.5:c.1862+316A>T	XP_005257650.1:n.1862+316A>T
XM_011525129.2:c.1967+316A>T	XP_011523431.1:n.1967+316A>T
NM_000342.4:c.2057+316A>T MANE Select	NP_000333.1:n.2057+316A>T