Canonical Allele Identifier: CA939370152

Gene: DHCR7

Linked Data

• dbSNP Id: rs1949226747
• gnomAD v3: 11-71431347-C-T
• gnomAD v4: 11-71431347-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71431347C>T , CM000673.2:g.71431347C>T	GRCh38
NC_000011.9:g.71142393C>T , CM000673.1:g.71142393C>T	GRCh37
NC_000011.8:g.70820041C>T	NCBI36
NG_012655.2:g.22085G>A , LRG_340:g.22085G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000534795.5:c.320-2495G>A