Canonical Allele Identifier: CA6658355

Gene: CYP27B1

Linked Data

• ClinVar Variation Id: 1094471
• ClinVar RCV Id: RCV001415018 ; RCV002504693 ; RCV003973256
• dbSNP Id: rs61734540
• ExAC: 12:58158894 C / T
• gnomAD v2: 12-58158894-C-T
• gnomAD v3: 12-57765111-C-T
• gnomAD v4: 12-57765111-C-T
• COSMIC: COSM1606458
• MyVariant Identifiers: chr12:g.58158894C>T (hg19) ; chr12:g.57765111C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765111C>T , CM000674.2:g.57765111C>T	GRCh38
NC_000012.11:g.58158894C>T , CM000674.1:g.58158894C>T	GRCh37
NC_000012.10:g.56445161C>T	NCBI36
NG_007076.1:g.7083G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.602G>A
ENST00000713544.1:c.771G>A	ENSP00000518840.1:p.Val257=
ENST00000713545.1:c.748G>A	ENSP00000518841.1:p.Val250Ile
ENST00000228606.9:c.690G>A MANE Select	ENSP00000228606.4:p.Val230=
ENST00000228606.8:c.690G>A	ENSP00000228606.4:p.Val230=
ENST00000546567.5:c.-16G>A	ENSP00000449472.1:n.-16G>A
ENST00000546609.1:c.602G>A
ENST00000547344.5:n.829G>A
ENST00000547451.1:n.490G>A
NM_000785.3:c.690G>A	NP_000776.1:p.Val230=
NM_000785.4:c.690G>A MANE Select	NP_000776.1:p.Val230=