Canonical Allele Identifier: CA290927996

Gene: SLC4A1

Linked Data

• dbSNP Id: rs537214746
• gnomAD v2: 17-42331468-A-G
• gnomAD v3: 17-44254100-A-G
• gnomAD v4: 17-44254100-A-G
• MyVariant Identifiers: chr17:g.42331468A>G (hg19) ; chr17:g.44254100A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254100A>G , CM000679.2:g.44254100A>G	GRCh38
NC_000017.10:g.42331468A>G , CM000679.1:g.42331468A>G	GRCh37
NC_000017.9:g.39686994A>G	NCBI36
NG_007498.1:g.19035T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+396T>C MANE Select	ENSP00000262418.6:n.2057+396T>C
ENST00000262418.10:c.2057+396T>C	ENSP00000262418.6:n.2057+396T>C
ENST00000399246.3:c.959+396T>C	ENSP00000382190.3:n.959+396T>C
NM_000342.3:c.2057+396T>C	NP_000333.1:n.2057+396T>C
XM_005257593.3:c.1862+396T>C	XP_005257650.1:n.1862+396T>C
XM_011525129.1:c.1967+396T>C	XP_011523431.1:n.1967+396T>C
XM_011525130.1:c.2057+396T>C	XP_011523432.1:n.2057+396T>C
XM_011525131.1:c.2058-292T>C	XP_011523433.1:n.2058-292T>C
XM_005257593.5:c.1862+396T>C	XP_005257650.1:n.1862+396T>C
XM_011525129.2:c.1967+396T>C	XP_011523431.1:n.1967+396T>C
NM_000342.4:c.2057+396T>C MANE Select	NP_000333.1:n.2057+396T>C