Canonical Allele Identifier: CA8600158

Gene: SLC4A1

Linked Data

• dbSNP Id: rs372514760
• ExAC: 17:42331955 G / A
• gnomAD v2: 17-42331955-G-A
• gnomAD v3: 17-44254587-G-A
• gnomAD v4: 17-44254587-G-A
• MyVariant Identifiers: chr17:g.42331955G>A (hg19) ; chr17:g.44254587G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254587G>A , CM000679.2:g.44254587G>A	GRCh38
NC_000017.10:g.42331955G>A , CM000679.1:g.42331955G>A	GRCh37
NC_000017.9:g.39687481G>A	NCBI36
NG_007498.1:g.18548C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1966C>T MANE Select	ENSP00000262418.6:p.Arg656Cys
ENST00000262418.10:c.1966C>T	ENSP00000262418.6:p.Arg656Cys
ENST00000399246.3:c.868C>T	ENSP00000382190.3:p.Arg290Cys
NM_000342.3:c.1966C>T	NP_000333.1:p.Arg656Cys
XM_005257593.3:c.1771C>T	XP_005257650.1:p.Arg591Cys
XM_011525129.1:c.1876C>T	XP_011523431.1:p.Arg626Cys
XM_011525130.1:c.1966C>T	XP_011523432.1:p.Arg656Cys
XM_011525131.1:c.1966C>T	XP_011523433.1:p.Arg656Cys
XM_005257593.5:c.1771C>T	XP_005257650.1:p.Arg591Cys
XM_011525129.2:c.1876C>T	XP_011523431.1:p.Arg626Cys
NM_000342.4:c.1966C>T MANE Select	NP_000333.1:p.Arg656Cys