Canonical Allele Identifier: CA381702325

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435767-C-G
• MyVariant Identifiers: chr11:g.71146813C>G (hg19) ; chr11:g.71435767C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435767C>G , CM000673.2:g.71435767C>G	GRCh38
NC_000011.9:g.71146813C>G , CM000673.1:g.71146813C>G	GRCh37
NC_000011.8:g.70824461C>G	NCBI36
NG_012655.2:g.17665G>C , LRG_340:g.17665G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1036G>C	ENSP00000435707.3:p.Val346Leu
ENST00000526780.6:c.1036G>C	ENSP00000435668.2:p.Val346Leu
ENST00000527316.6:c.862G>C	ENSP00000435047.2:p.Val288Leu
ENST00000682708.1:c.1087G>C	ENSP00000506866.1:p.Val363Leu
ENST00000683287.1:c.1072G>C	ENSP00000507607.1:p.Val358Leu
ENST00000683714.1:c.1044G>C	ENSP00000508207.1:p.Trp348Cys
ENST00000684396.1:n.1076G>C
ENST00000685320.1:c.451G>C	ENSP00000509319.1:p.Val151Leu
ENST00000690257.1:c.940G>C	ENSP00000510750.1:p.Val314Leu
ENST00000355527.8:c.1036G>C MANE Select	ENSP00000347717.4:p.Val346Leu
ENST00000355527.7:c.1036G>C	ENSP00000347717.3:p.Val346Leu
ENST00000407721.6:c.1036G>C	ENSP00000384739.2:p.Val346Leu
ENST00000525137.1:c.537G>C	ENSP00000435956.1:p.Trp179Cys
ENST00000533800.5:c.286G>C	ENSP00000435011.1:p.Val96Leu
ENST00000534795.5:c.319+2045G>C
NM_001163817.1:c.1036G>C	NP_001157289.1:p.Val346Leu
NM_001360.2:c.1036G>C , LRG_340t1:c.1036G>C	NP_001351.2:p.Val346Leu
XM_011544777.1:c.1170G>C	XP_011543079.1:p.Trp390Cys
XM_011544777.2:c.1170G>C	XP_011543079.1:p.Trp390Cys
NM_001163817.2:c.1036G>C	NP_001157289.1:p.Val346Leu
NM_001360.3:c.1036G>C MANE Select	NP_001351.2:p.Val346Leu