Canonical Allele Identifier: CA2112798

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 1081888
• ClinVar RCV Id: RCV001398032
• dbSNP Id: rs139426361
• ExAC: 2:219678812 C / T
• gnomAD v2: 2-219678812-C-T
• gnomAD v3: 2-218814089-C-T
• gnomAD v4: 2-218814089-C-T
• MyVariant Identifiers: chr2:g.219678812C>T (hg19) ; chr2:g.218814089C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814089C>T , CM000664.2:g.218814089C>T	GRCh38
NC_000002.11:g.219678812C>T , CM000664.1:g.219678812C>T	GRCh37
NC_000002.10:g.219387056C>T	NCBI36
NG_007959.1:g.37341C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258415.9:c.1086C>T MANE Select	ENSP00000258415.4:p.His362=
ENST00000258415.8:c.1086C>T	ENSP00000258415.4:p.His362=
ENST00000466602.1:n.1208C>T
ENST00000494263.5:n.1520C>T
NM_000784.3:c.1086C>T	NP_000775.1:p.His362=
XM_017003488.2:c.666C>T	XP_016858977.1:p.His222=
NM_000784.4:c.1086C>T MANE Select	NP_000775.1:p.His362=