Canonical Allele Identifier: CA127380

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 17759
• ClinVar RCV Id: RCV000019336 ; RCV001201773 ; RCV001125390 ; RCV001125391 ; RCV001125389
• dbSNP Id: rs75731670
• ExAC: 17:42331949 C / T
• gnomAD v2: 17-42331949-C-T
• gnomAD v3: 17-44254581-C-T
• gnomAD v4: 17-44254581-C-T
• COSMIC: COSM1265956
• MyVariant Identifiers: chr17:g.42331949C>T (hg19) ; chr17:g.44254581C>T (hg38)
• PubMed: PMID:7812009

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254581C>T , CM000679.2:g.44254581C>T	GRCh38
NC_000017.10:g.42331949C>T , CM000679.1:g.42331949C>T	GRCh37
NC_000017.9:g.39687475C>T	NCBI36
NG_007498.1:g.18554G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1972G>A MANE Select	ENSP00000262418.6:p.Glu658Lys
ENST00000262418.10:c.1972G>A	ENSP00000262418.6:p.Glu658Lys
ENST00000399246.3:c.874G>A	ENSP00000382190.3:p.Glu292Lys
NM_000342.3:c.1972G>A	NP_000333.1:p.Glu658Lys
XM_005257593.3:c.1777G>A	XP_005257650.1:p.Glu593Lys
XM_011525129.1:c.1882G>A	XP_011523431.1:p.Glu628Lys
XM_011525130.1:c.1972G>A	XP_011523432.1:p.Glu658Lys
XM_011525131.1:c.1972G>A	XP_011523433.1:p.Glu658Lys
XM_005257593.5:c.1777G>A	XP_005257650.1:p.Glu593Lys
XM_011525129.2:c.1882G>A	XP_011523431.1:p.Glu628Lys
NM_000342.4:c.1972G>A MANE Select	NP_000333.1:p.Glu658Lys