Canonical Allele Identifier: CA381700696

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435456-G-C
• MyVariant Identifiers: chr11:g.71146502G>C (hg19) ; chr11:g.71435456G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435456G>C , CM000673.2:g.71435456G>C	GRCh38
NC_000011.9:g.71146502G>C , CM000673.1:g.71146502G>C	GRCh37
NC_000011.8:g.70824150G>C	NCBI36
NG_012655.2:g.17976C>G , LRG_340:g.17976C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1347C>G	ENSP00000435707.3:p.His449Gln
ENST00000526780.6:c.1347C>G	ENSP00000435668.2:p.His449Gln
ENST00000527316.6:c.1173C>G	ENSP00000435047.2:p.His391Gln
ENST00000682708.1:c.1398C>G	ENSP00000506866.1:p.His466Gln
ENST00000683287.1:c.1383C>G	ENSP00000507607.1:p.His461Gln
ENST00000683714.1:c.*110C>G	ENSP00000508207.1:n.*110C>G
ENST00000684396.1:n.1387C>G
ENST00000685320.1:c.762C>G	ENSP00000509319.1:p.His254Gln
ENST00000690257.1:c.1251C>G	ENSP00000510750.1:p.His417Gln
ENST00000355527.8:c.1347C>G MANE Select	ENSP00000347717.4:p.His449Gln
ENST00000355527.7:c.1347C>G	ENSP00000347717.3:p.His449Gln
ENST00000407721.6:c.1347C>G	ENSP00000384739.2:p.His449Gln
ENST00000525137.1:c.848C>G	ENSP00000435956.1:n.848C>G
ENST00000533800.5:c.597C>G	ENSP00000435011.1:p.His199Gln
ENST00000534795.5:c.319+2356C>G
NM_001163817.1:c.1347C>G	NP_001157289.1:p.His449Gln
NM_001360.2:c.1347C>G , LRG_340t1:c.1347C>G	NP_001351.2:p.His449Gln
XM_011544777.1:c.*110C>G	XP_011543079.1:n.*110C>G
XM_011544777.2:c.*110C>G	XP_011543079.1:n.*110C>G
NM_001163817.2:c.1347C>G	NP_001157289.1:p.His449Gln
NM_001360.3:c.1347C>G MANE Select	NP_001351.2:p.His449Gln