Canonical Allele Identifier: CA1707795

Gene: CYP26B1

Linked Data

• ClinVar Variation Id: 445321
• ClinVar RCV Id: RCV000514998
• dbSNP Id: rs7568553
• ExAC: 2:72359636 G / C
• gnomAD v2: 2-72359636-G-C
• gnomAD v3: 2-72132507-G-C
• gnomAD v4: 2-72132507-G-C
• MyVariant Identifiers: chr2:g.72359636G>C (hg19) ; chr2:g.72132507G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.72132507G>C , CM000664.2:g.72132507G>C	GRCh38
NC_000002.11:g.72359636G>C , CM000664.1:g.72359636G>C	GRCh37
NC_000002.10:g.72213144G>C	NCBI36
NG_007957.1:g.20328C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000001146.7:c.1259C>G MANE Select	ENSP00000001146.2:p.Ala420Gly
ENST00000001146.6:c.1259C>G	ENSP00000001146.2:p.Ala420Gly
ENST00000412253.1:c.686C>G	ENSP00000401465.1:p.Ala229Gly
ENST00000546307.5:c.1034C>G	ENSP00000443304.1:p.Ala345Gly
NM_001277742.1:c.1034C>G	NP_001264671.1:p.Ala345Gly
NM_019885.3:c.1259C>G	NP_063938.1:p.Ala420Gly
XM_005264433.3:c.1085C>G	XP_005264490.1:p.Ala362Gly
XM_011532988.1:c.686C>G	XP_011531290.1:p.Ala229Gly
XM_005264433.4:c.1085C>G	XP_005264490.1:p.Ala362Gly
NM_001277742.2:c.1034C>G	NP_001264671.1:p.Ala345Gly
NM_019885.4:c.1259C>G MANE Select	NP_063938.1:p.Ala420Gly