Canonical Allele Identifier: CA500618905

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44253332-G-C
• MyVariant Identifiers: chr17:g.42330700G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44253332G>C , CM000679.2:g.44253332G>C	GRCh38
NC_000017.10:g.42330700G>C , CM000679.1:g.42330700G>C	GRCh37
NC_000017.9:g.39686226G>C	NCBI36
NG_007498.1:g.19803C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.2097C>G MANE Select	ENSP00000262418.6:p.Gly699=
ENST00000262418.10:c.2097C>G	ENSP00000262418.6:p.Gly699=
ENST00000399246.3:c.999C>G	ENSP00000382190.3:p.Gly333=
NM_000342.3:c.2097C>G	NP_000333.1:p.Gly699=
XM_005257593.3:c.1902C>G	XP_005257650.1:p.Gly634=
XM_011525129.1:c.2007C>G	XP_011523431.1:p.Gly669=
XM_011525130.1:c.2097C>G	XP_011523432.1:p.Gly699=
XM_005257593.5:c.1902C>G	XP_005257650.1:p.Gly634=
XM_011525129.2:c.2007C>G	XP_011523431.1:p.Gly669=
NM_000342.4:c.2097C>G MANE Select	NP_000333.1:p.Gly699=