Canonical Allele Identifier: CA6162217

Gene: DHCR7

Linked Data

• dbSNP Id: rs757059514
• ExAC: 11:71146371 G / A
• gnomAD v2: 11-71146371-G-A
• gnomAD v4: 11-71435325-G-A
• MyVariant Identifiers: chr11:g.71146371G>A (hg19) ; chr11:g.71435325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435325G>A , CM000673.2:g.71435325G>A	GRCh38
NC_000011.9:g.71146371G>A , CM000673.1:g.71146371G>A	GRCh37
NC_000011.8:g.70824019G>A	NCBI36
NG_012655.2:g.18107C>T , LRG_340:g.18107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.*50C>T	ENSP00000435707.3:n.*50C>T
ENST00000526780.6:c.*50C>T	ENSP00000435668.2:n.*50C>T
ENST00000682708.1:c.*50C>T	ENSP00000506866.1:n.*50C>T
ENST00000683287.1:c.*50C>T	ENSP00000507607.1:n.*50C>T
ENST00000683714.1:c.*241C>T	ENSP00000508207.1:n.*241C>T
ENST00000684396.1:n.1518C>T
ENST00000685320.1:c.*50C>T	ENSP00000509319.1:n.*50C>T
ENST00000690257.1:c.*50C>T	ENSP00000510750.1:n.*50C>T
ENST00000355527.8:c.*50C>T MANE Select	ENSP00000347717.4:n.*50C>T
ENST00000355527.7:c.*50C>T	ENSP00000347717.3:n.*50C>T
ENST00000407721.6:c.*50C>T	ENSP00000384739.2:n.*50C>T
ENST00000525137.1:c.979C>T	ENSP00000435956.1:n.979C>T
ENST00000533800.5:c.611+117C>T	ENSP00000435011.1:n.611+117C>T
ENST00000534795.5:c.319+2487C>T
NM_001163817.1:c.*50C>T	NP_001157289.1:n.*50C>T
NM_001360.2:c.*50C>T , LRG_340t1:c.*50C>T	NP_001351.2:n.*50C>T
XM_011544777.1:c.*241C>T	XP_011543079.1:n.*241C>T
XM_011544777.2:c.*241C>T	XP_011543079.1:n.*241C>T
NM_001163817.2:c.*50C>T	NP_001157289.1:n.*50C>T
NM_001360.3:c.*50C>T MANE Select	NP_001351.2:n.*50C>T