Canonical Allele Identifier: CA679808335
Gene: DHCR7 HGNC NCBI

Linked Data

dbSNP Id: rs1050890263
gnomAD v3: 11-71431279-G-C
gnomAD v4: 11-71431279-G-C
MyVariant Identifiers: chr11:g.71142325G>C (hg19) chr11:g.71431279G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71431279G>C , CM000673.2:g.71431279G>C GRCh38
NC_000011.9:g.71142325G>C , CM000673.1:g.71142325G>C GRCh37
NC_000011.8:g.70819973G>C NCBI36
NG_012655.2:g.22153C>G , LRG_340:g.22153C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000534795.5:c.320-2427C>G
Search 100 bp 5'
Search 100 bp 3'