Canonical Allele Identifier: CA626124714

Gene: SLC4A1

Linked Data

• dbSNP Id: rs1386550122
• gnomAD v2: 17-42331832-C-T
• gnomAD v4: 17-44254464-C-T
• MyVariant Identifiers: chr17:g.42331832C>T (hg19) ; chr17:g.44254464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254464C>T , CM000679.2:g.44254464C>T	GRCh38
NC_000017.10:g.42331832C>T , CM000679.1:g.42331832C>T	GRCh37
NC_000017.9:g.39687358C>T	NCBI36
NG_007498.1:g.18671G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+32G>A MANE Select	ENSP00000262418.6:n.2057+32G>A
ENST00000262418.10:c.2057+32G>A	ENSP00000262418.6:n.2057+32G>A
ENST00000399246.3:c.959+32G>A	ENSP00000382190.3:n.959+32G>A
NM_000342.3:c.2057+32G>A	NP_000333.1:n.2057+32G>A
XM_005257593.3:c.1862+32G>A	XP_005257650.1:n.1862+32G>A
XM_011525129.1:c.1967+32G>A	XP_011523431.1:n.1967+32G>A
XM_011525130.1:c.2057+32G>A	XP_011523432.1:n.2057+32G>A
XM_011525131.1:c.2057+32G>A	XP_011523433.1:n.2057+32G>A
XM_005257593.5:c.1862+32G>A	XP_005257650.1:n.1862+32G>A
XM_011525129.2:c.1967+32G>A	XP_011523431.1:n.1967+32G>A
NM_000342.4:c.2057+32G>A MANE Select	NP_000333.1:n.2057+32G>A