Canonical Allele Identifier: CA290924186

Gene: SLC4A1

Linked Data

• dbSNP Id: rs374250507
• gnomAD v3: 17-44249702-C-T
• gnomAD v4: 17-44249702-C-T
• MyVariant Identifiers: chr17:g.42327070C>T (hg19) ; chr17:g.44249702C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249702C>T , CM000679.2:g.44249702C>T	GRCh38
NC_000017.10:g.42327070C>T , CM000679.1:g.42327070C>T	GRCh37
NC_000017.9:g.39682596C>T	NCBI36
NG_007498.1:g.23433G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*756G>A MANE Select	ENSP00000262418.6:n.*756G>A
ENST00000262418.10:c.*756G>A	ENSP00000262418.6:n.*756G>A
ENST00000399246.3:c.*756G>A	ENSP00000382190.3:n.*756G>A
ENST00000631130.1:c.-452G>A	ENSP00000486787.1:n.-452G>A
NM_000342.3:c.*756G>A	NP_000333.1:n.*756G>A
XM_005257593.3:c.*756G>A	XP_005257650.1:n.*756G>A
XM_011525129.1:c.*756G>A	XP_011523431.1:n.*756G>A
XM_005257593.5:c.*756G>A	XP_005257650.1:n.*756G>A
XM_011525129.2:c.*756G>A	XP_011523431.1:n.*756G>A
NM_000342.4:c.*756G>A MANE Select	NP_000333.1:n.*756G>A