Canonical Allele Identifier: CA399782517

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 1330736
• ClinVar RCV Id: RCV001811834
• dbSNP Id: rs2047371081
• MyVariant Identifiers: chr17:g.42331863C>G (hg19) ; chr17:g.44254495C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254495C>G , CM000679.2:g.44254495C>G	GRCh38
NC_000017.10:g.42331863C>G , CM000679.1:g.42331863C>G	GRCh37
NC_000017.9:g.39687389C>G	NCBI36
NG_007498.1:g.18640G>C

Transcript Alleles

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