Canonical Allele Identifier: CA399782933

Gene: SLC4A1

Linked Data

• dbSNP Id: rs1253447708
• gnomAD v3: 17-44254580-T-C
• gnomAD v4: 17-44254580-T-C
• MyVariant Identifiers: chr17:g.42331948T>C (hg19) ; chr17:g.44254580T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254580T>C , CM000679.2:g.44254580T>C	GRCh38
NC_000017.10:g.42331948T>C , CM000679.1:g.42331948T>C	GRCh37
NC_000017.9:g.39687474T>C	NCBI36
NG_007498.1:g.18555A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1973A>G MANE Select	ENSP00000262418.6:p.Glu658Gly
ENST00000262418.10:c.1973A>G	ENSP00000262418.6:p.Glu658Gly
ENST00000399246.3:c.875A>G	ENSP00000382190.3:p.Glu292Gly
NM_000342.3:c.1973A>G	NP_000333.1:p.Glu658Gly
XM_005257593.3:c.1778A>G	XP_005257650.1:p.Glu593Gly
XM_011525129.1:c.1883A>G	XP_011523431.1:p.Glu628Gly
XM_011525130.1:c.1973A>G	XP_011523432.1:p.Glu658Gly
XM_011525131.1:c.1973A>G	XP_011523433.1:p.Glu658Gly
XM_005257593.5:c.1778A>G	XP_005257650.1:p.Glu593Gly
XM_011525129.2:c.1883A>G	XP_011523431.1:p.Glu628Gly
NM_000342.4:c.1973A>G MANE Select	NP_000333.1:p.Glu658Gly