Canonical Allele Identifier: CA8600147

Gene: SLC4A1

Linked Data

• dbSNP Id: rs765515997
• ExAC: 17:42331901 C / T
• gnomAD v2: 17-42331901-C-T
• gnomAD v3: 17-44254533-C-T
• gnomAD v4: 17-44254533-C-T
• MyVariant Identifiers: chr17:g.42331901C>T (hg19) ; chr17:g.44254533C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254533C>T , CM000679.2:g.44254533C>T	GRCh38
NC_000017.10:g.42331901C>T , CM000679.1:g.42331901C>T	GRCh37
NC_000017.9:g.39687427C>T	NCBI36
NG_007498.1:g.18602G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2020G>A MANE Select	ENSP00000262418.6:p.Val674Ile
ENST00000262418.10:c.2020G>A	ENSP00000262418.6:p.Val674Ile
ENST00000399246.3:c.922G>A	ENSP00000382190.3:p.Val308Ile
NM_000342.3:c.2020G>A	NP_000333.1:p.Val674Ile
XM_005257593.3:c.1825G>A	XP_005257650.1:p.Val609Ile
XM_011525129.1:c.1930G>A	XP_011523431.1:p.Val644Ile
XM_011525130.1:c.2020G>A	XP_011523432.1:p.Val674Ile
XM_011525131.1:c.2020G>A	XP_011523433.1:p.Val674Ile
XM_005257593.5:c.1825G>A	XP_005257650.1:p.Val609Ile
XM_011525129.2:c.1930G>A	XP_011523431.1:p.Val644Ile
NM_000342.4:c.2020G>A MANE Select	NP_000333.1:p.Val674Ile