Canonical Allele Identifier: CA600050957
Gene: DHCR7 HGNC NCBI

Linked Data

dbSNP Id: rs1415686681
gnomAD v2: 11-71142324-G-A
gnomAD v3: 11-71431278-G-A
gnomAD v4: 11-71431278-G-A
MyVariant Identifiers: chr11:g.71142324G>A (hg19) chr11:g.71431278G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71431278G>A , CM000673.2:g.71431278G>A GRCh38
NC_000011.9:g.71142324G>A , CM000673.1:g.71142324G>A GRCh37
NC_000011.8:g.70819972G>A NCBI36
NG_012655.2:g.22154C>T , LRG_340:g.22154C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000534795.5:c.320-2426C>T
Search 100 bp 5'
Search 100 bp 3'