Canonical Allele Identifier: CA10649381

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 323492
• ClinVar RCV Id: RCV000288862 ; RCV000325116 ; RCV000379710
• dbSNP Id: rs886052994
• MyVariant Identifiers: chr17:g.42326954C>G (hg19) ; chr17:g.44249586C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249586C>G , CM000679.2:g.44249586C>G	GRCh38
NC_000017.10:g.42326954C>G , CM000679.1:g.42326954C>G	GRCh37
NC_000017.9:g.39682480C>G	NCBI36
NG_007498.1:g.23549G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*872G>C MANE Select	ENSP00000262418.6:n.*872G>C
ENST00000262418.10:c.*872G>C	ENSP00000262418.6:n.*872G>C
ENST00000399246.3:c.*872G>C	ENSP00000382190.3:n.*872G>C
ENST00000631130.1:c.-336G>C	ENSP00000486787.1:n.-336G>C
NM_000342.3:c.*872G>C	NP_000333.1:n.*872G>C
XM_005257593.3:c.*872G>C	XP_005257650.1:n.*872G>C
XM_011525129.1:c.*872G>C	XP_011523431.1:n.*872G>C
XM_005257593.5:c.*872G>C	XP_005257650.1:n.*872G>C
XM_011525129.2:c.*872G>C	XP_011523431.1:n.*872G>C
NM_000342.4:c.*872G>C MANE Select	NP_000333.1:n.*872G>C