Canonical Allele Identifier: CA984004569

Gene: SLC4A1

Linked Data

• dbSNP Id: rs2047369156
• gnomAD v3: 17-44254277-C-CT
• gnomAD v4: 17-44254277-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254277_44254278insT , CM000679.2:g.44254277_44254278insT	GRCh38
NC_000017.10:g.42331645_42331646insT , CM000679.1:g.42331645_42331646insT	GRCh37
NC_000017.9:g.39687171_39687172insT	NCBI36
NG_007498.1:g.18857_18858insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+218_2057+219insA MANE Select	ENSP00000262418.6:n.2057+218_2057+219insA
ENST00000262418.10:c.2057+218_2057+219insA	ENSP00000262418.6:n.2057+218_2057+219insA
ENST00000399246.3:c.959+218_959+219insA	ENSP00000382190.3:n.959+218_959+219insA
NM_000342.3:c.2057+218_2057+219insA	NP_000333.1:n.2057+218_2057+219insA
XM_005257593.3:c.1862+218_1862+219insA	XP_005257650.1:n.1862+218_1862+219insA
XM_011525129.1:c.1967+218_1967+219insA	XP_011523431.1:n.1967+218_1967+219insA
XM_011525130.1:c.2057+218_2057+219insA	XP_011523432.1:n.2057+218_2057+219insA
XM_011525131.1:c.2057+218_2057+219insA	XP_011523433.1:n.2057+218_2057+219insA
XM_005257593.5:c.1862+218_1862+219insA	XP_005257650.1:n.1862+218_1862+219insA
XM_011525129.2:c.1967+218_1967+219insA	XP_011523431.1:n.1967+218_1967+219insA
NM_000342.4:c.2057+218_2057+219insA MANE Select	NP_000333.1:n.2057+218_2057+219insA