Canonical Allele Identifier: CA399779916

Gene: SLC4A1

Linked Data

• dbSNP Id: rs567528042
• gnomAD v3: 17-44251266-C-T
• gnomAD v4: 17-44251266-C-T
• MyVariant Identifiers: chr17:g.42328634C>T (hg19) ; chr17:g.44251266C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44251266C>T , CM000679.2:g.44251266C>T	GRCh38
NC_000017.10:g.42328634C>T , CM000679.1:g.42328634C>T	GRCh37
NC_000017.9:g.39684160C>T	NCBI36
NG_007498.1:g.21869G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2548G>A MANE Select	ENSP00000262418.6:p.Val850Met
ENST00000262418.10:c.2548G>A	ENSP00000262418.6:p.Val850Met
ENST00000399246.3:c.1450G>A	ENSP00000382190.3:p.Val484Met
NM_000342.3:c.2548G>A	NP_000333.1:p.Val850Met
XM_005257593.3:c.2353G>A	XP_005257650.1:p.Val785Met
XM_011525129.1:c.2458G>A	XP_011523431.1:p.Val820Met
XM_005257593.5:c.2353G>A	XP_005257650.1:p.Val785Met
XM_011525129.2:c.2458G>A	XP_011523431.1:p.Val820Met
NM_000342.4:c.2548G>A MANE Select	NP_000333.1:p.Val850Met