Canonical Allele Identifier: CA290929106

Gene: SLC4A1

Linked Data

• dbSNP Id: rs121912754
• gnomAD v2: 17-42332660-C-T
• gnomAD v3: 17-44255292-C-T
• gnomAD v4: 17-44255292-C-T
• MyVariant Identifiers: chr17:g.42332660C>T (hg19) ; chr17:g.44255292C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44255292C>T , CM000679.2:g.44255292C>T	GRCh38
NC_000017.10:g.42332660C>T , CM000679.1:g.42332660C>T	GRCh37
NC_000017.9:g.39688186C>T	NCBI36
NG_007498.1:g.17843G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.1805G>A MANE Select	ENSP00000262418.6:p.Arg602His
ENST00000262418.10:c.1805G>A	ENSP00000262418.6:p.Arg602His
ENST00000399246.3:c.778-71G>A	ENSP00000382190.3:n.778-71G>A
NM_000342.3:c.1805G>A	NP_000333.1:p.Arg602His
XM_005257593.3:c.1610G>A	XP_005257650.1:p.Arg537His
XM_011525129.1:c.1800+381G>A	XP_011523431.1:n.1800+381G>A
XM_011525130.1:c.1805G>A	XP_011523432.1:p.Arg602His
XM_011525131.1:c.1805G>A	XP_011523433.1:p.Arg602His
XM_005257593.5:c.1610G>A	XP_005257650.1:p.Arg537His
XM_011525129.2:c.1800+381G>A	XP_011523431.1:n.1800+381G>A
NM_000342.4:c.1805G>A MANE Select	NP_000333.1:p.Arg602His