Canonical Allele Identifier: CA10640022

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 305946
• ClinVar RCV Id: RCV000346552
• dbSNP Id: rs759058043
• gnomAD v2: 11-71146097-G-A
• gnomAD v3: 11-71435051-G-A
• gnomAD v4: 11-71435051-G-A
• MyVariant Identifiers: chr11:g.71146097G>A (hg19) ; chr11:g.71435051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435051G>A , CM000673.2:g.71435051G>A	GRCh38
NC_000011.9:g.71146097G>A , CM000673.1:g.71146097G>A	GRCh37
NC_000011.8:g.70823745G>A	NCBI36
NG_012655.2:g.18381C>T , LRG_340:g.18381C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.*324C>T	ENSP00000435707.3:n.*324C>T
ENST00000526780.6:c.*324C>T	ENSP00000435668.2:n.*324C>T
ENST00000682708.1:c.*324C>T	ENSP00000506866.1:n.*324C>T
ENST00000683287.1:c.*324C>T	ENSP00000507607.1:n.*324C>T
ENST00000683714.1:c.*515C>T	ENSP00000508207.1:n.*515C>T
ENST00000684396.1:n.1792C>T
ENST00000685320.1:c.*324C>T	ENSP00000509319.1:n.*324C>T
ENST00000690257.1:c.*324C>T	ENSP00000510750.1:n.*324C>T
ENST00000355527.8:c.*324C>T MANE Select	ENSP00000347717.4:n.*324C>T
ENST00000355527.7:c.*324C>T	ENSP00000347717.3:n.*324C>T
ENST00000407721.6:c.*324C>T	ENSP00000384739.2:n.*324C>T
ENST00000533800.5:c.751C>T	ENSP00000435011.1:n.751C>T
ENST00000534795.5:c.319+2761C>T
NM_001163817.1:c.*324C>T	NP_001157289.1:n.*324C>T
NM_001360.2:c.*324C>T , LRG_340t1:c.*324C>T	NP_001351.2:n.*324C>T
XM_011544777.1:c.*515C>T	XP_011543079.1:n.*515C>T
XM_011544777.2:c.*515C>T	XP_011543079.1:n.*515C>T
NM_001163817.2:c.*324C>T	NP_001157289.1:n.*324C>T
NM_001360.3:c.*324C>T MANE Select	NP_001351.2:n.*324C>T