Canonical Allele Identifier: CA10635617

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 305945
• ClinVar RCV Id: RCV000310460
• dbSNP Id: rs537429160
• gnomAD v2: 11-71146004-G-A
• gnomAD v3: 11-71434958-G-A
• gnomAD v4: 11-71434958-G-A
• MyVariant Identifiers: chr11:g.71146004G>A (hg19) ; chr11:g.71434958G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71434958G>A , CM000673.2:g.71434958G>A	GRCh38
NC_000011.9:g.71146004G>A , CM000673.1:g.71146004G>A	GRCh37
NC_000011.8:g.70823652G>A	NCBI36
NG_012655.2:g.18474C>T , LRG_340:g.18474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.*417C>T	ENSP00000435707.3:n.*417C>T
ENST00000526780.6:c.*417C>T	ENSP00000435668.2:n.*417C>T
ENST00000682708.1:c.*417C>T	ENSP00000506866.1:n.*417C>T
ENST00000683287.1:c.*417C>T	ENSP00000507607.1:n.*417C>T
ENST00000683714.1:c.*608C>T	ENSP00000508207.1:n.*608C>T
ENST00000684396.1:n.1885C>T
ENST00000685320.1:c.*417C>T	ENSP00000509319.1:n.*417C>T
ENST00000690257.1:c.*417C>T	ENSP00000510750.1:n.*417C>T
ENST00000355527.8:c.*417C>T MANE Select	ENSP00000347717.4:n.*417C>T
ENST00000355527.7:c.*417C>T	ENSP00000347717.3:n.*417C>T
ENST00000407721.6:c.*417C>T	ENSP00000384739.2:n.*417C>T
ENST00000534795.5:c.319+2854C>T
NM_001163817.1:c.*417C>T	NP_001157289.1:n.*417C>T
NM_001360.2:c.*417C>T , LRG_340t1:c.*417C>T	NP_001351.2:n.*417C>T
XM_011544777.1:c.*608C>T	XP_011543079.1:n.*608C>T
XM_011544777.2:c.*608C>T	XP_011543079.1:n.*608C>T
NM_001163817.2:c.*417C>T	NP_001157289.1:n.*417C>T
NM_001360.3:c.*417C>T MANE Select	NP_001351.2:n.*417C>T