Canonical Allele Identifier: CA224320351
Gene: DHCR7 HGNC NCBI

Linked Data

dbSNP Id: rs557378990
gnomAD v3: 11-71431368-G-A
gnomAD v4: 11-71431368-G-A
MyVariant Identifiers: chr11:g.71142414G>A (hg19) chr11:g.71431368G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71431368G>A , CM000673.2:g.71431368G>A GRCh38
NC_000011.9:g.71142414G>A , CM000673.1:g.71142414G>A GRCh37
NC_000011.8:g.70820062G>A NCBI36
NG_012655.2:g.22064C>T , LRG_340:g.22064C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000534795.5:c.320-2516C>T
Search 100 bp 5'
Search 100 bp 3'