Canonical Allele Identifier: CA8599953

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 255912
• ClinVar RCV Id: RCV000244054 ; RCV000266644 ; RCV000303000 ; RCV000361413 ; RCV000755388
• dbSNP Id: rs45497993
• ExAC: 17:42327874 A / G
• gnomAD v2: 17-42327874-A-G
• gnomAD v3: 17-44250506-A-G
• gnomAD v4: 17-44250506-A-G
• MyVariant Identifiers: chr17:g.42327874A>G (hg19) ; chr17:g.44250506A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44250506A>G , CM000679.2:g.44250506A>G	GRCh38
NC_000017.10:g.42327874A>G , CM000679.1:g.42327874A>G	GRCh37
NC_000017.9:g.39683400A>G	NCBI36
NG_007498.1:g.22629T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2688T>C MANE Select	ENSP00000262418.6:p.Asp896=
ENST00000262418.10:c.2688T>C	ENSP00000262418.6:p.Asp896=
ENST00000399246.3:c.1590T>C	ENSP00000382190.3:p.Asp530=
NM_000342.3:c.2688T>C	NP_000333.1:p.Asp896=
XM_005257593.3:c.2493T>C	XP_005257650.1:p.Asp831=
XM_011525129.1:c.2598T>C	XP_011523431.1:p.Asp866=
XM_005257593.5:c.2493T>C	XP_005257650.1:p.Asp831=
XM_011525129.2:c.2598T>C	XP_011523431.1:p.Asp866=
NM_000342.4:c.2688T>C MANE Select	NP_000333.1:p.Asp896=