Canonical Allele Identifier: CA13590434

Gene: CYP27B1

Linked Data

• dbSNP Id: rs3782130
• gnomAD v2: 12-58161898-G-C
• gnomAD v3: 12-57768115-G-C
• gnomAD v4: 12-57768115-G-C
• MyVariant Identifiers: chr12:g.58161898G>C (hg19) ; chr12:g.57768115G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57768115G>C , CM000674.2:g.57768115G>C	GRCh38
NC_000012.11:g.58161898G>C , CM000674.1:g.58161898G>C	GRCh37
NC_000012.10:g.56448165G>C	NCBI36
NG_007076.1:g.4079C>G
NG_047060.1:g.9017C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.107+765C>G
ENST00000546609.1:c.107+765C>G