Canonical Allele Identifier: CA8600151

Gene: SLC4A1

Linked Data

• dbSNP Id: rs751579067
• ExAC: 17:42331938 G / T
• gnomAD v2: 17-42331938-G-T
• gnomAD v3: 17-44254570-G-T
• gnomAD v4: 17-44254570-G-T
• MyVariant Identifiers: chr17:g.42331938G>T (hg19) ; chr17:g.44254570G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254570G>T , CM000679.2:g.44254570G>T	GRCh38
NC_000017.10:g.42331938G>T , CM000679.1:g.42331938G>T	GRCh37
NC_000017.9:g.39687464G>T	NCBI36
NG_007498.1:g.18565C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1983C>A MANE Select	ENSP00000262418.6:p.Ile661=
ENST00000262418.10:c.1983C>A	ENSP00000262418.6:p.Ile661=
ENST00000399246.3:c.885C>A	ENSP00000382190.3:p.Ile295=
NM_000342.3:c.1983C>A	NP_000333.1:p.Ile661=
XM_005257593.3:c.1788C>A	XP_005257650.1:p.Ile596=
XM_011525129.1:c.1893C>A	XP_011523431.1:p.Ile631=
XM_011525130.1:c.1983C>A	XP_011523432.1:p.Ile661=
XM_011525131.1:c.1983C>A	XP_011523433.1:p.Ile661=
XM_005257593.5:c.1788C>A	XP_005257650.1:p.Ile596=
XM_011525129.2:c.1893C>A	XP_011523431.1:p.Ile631=
NM_000342.4:c.1983C>A MANE Select	NP_000333.1:p.Ile661=