Canonical Allele Identifier: CA8600160

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 255909
• ClinVar RCV Id: RCV000251765 ; RCV000277845 ; RCV000296951 ; RCV000370137 ; RCV000882043
• dbSNP Id: rs5021
• ExAC: 17:42331968 G / A
• gnomAD v2: 17-42331968-G-A
• gnomAD v3: 17-44254600-G-A
• gnomAD v4: 17-44254600-G-A
• MyVariant Identifiers: chr17:g.42331968G>A (hg19) ; chr17:g.44254600G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254600G>A , CM000679.2:g.44254600G>A	GRCh38
NC_000017.10:g.42331968G>A , CM000679.1:g.42331968G>A	GRCh37
NC_000017.9:g.39687494G>A	NCBI36
NG_007498.1:g.18535C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1953C>T MANE Select	ENSP00000262418.6:p.His651=
ENST00000262418.10:c.1953C>T	ENSP00000262418.6:p.His651=
ENST00000399246.3:c.855C>T	ENSP00000382190.3:p.His285=
NM_000342.3:c.1953C>T	NP_000333.1:p.His651=
XM_005257593.3:c.1758C>T	XP_005257650.1:p.His586=
XM_011525129.1:c.1863C>T	XP_011523431.1:p.His621=
XM_011525130.1:c.1953C>T	XP_011523432.1:p.His651=
XM_011525131.1:c.1953C>T	XP_011523433.1:p.His651=
XM_005257593.5:c.1758C>T	XP_005257650.1:p.His586=
XM_011525129.2:c.1863C>T	XP_011523431.1:p.His621=
NM_000342.4:c.1953C>T MANE Select	NP_000333.1:p.His651=