Canonical Allele Identifier: CA381703189

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71438880-T-G
• MyVariant Identifiers: chr11:g.71149926T>G (hg19) ; chr11:g.71438880T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438880T>G , CM000673.2:g.71438880T>G	GRCh38
NC_000011.9:g.71149926T>G , CM000673.1:g.71149926T>G	GRCh37
NC_000011.8:g.70827574T>G	NCBI36
NG_012655.2:g.14552A>C , LRG_340:g.14552A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.830A>C	ENSP00000435707.3:p.Gln277Pro
ENST00000526780.6:c.830A>C	ENSP00000435668.2:p.Gln277Pro
ENST00000527316.6:c.656A>C	ENSP00000435047.2:p.Gln219Pro
ENST00000682708.1:c.881A>C	ENSP00000506866.1:p.Gln294Pro
ENST00000682880.1:c.830A>C	ENSP00000507520.1:p.Gln277Pro
ENST00000683287.1:c.866A>C	ENSP00000507607.1:p.Gln289Pro
ENST00000683714.1:c.830A>C	ENSP00000508207.1:p.Gln277Pro
ENST00000684396.1:n.870A>C
ENST00000685320.1:c.245A>C	ENSP00000509319.1:p.Gln82Pro
ENST00000690257.1:c.734A>C	ENSP00000510750.1:p.Gln245Pro
ENST00000355527.8:c.830A>C MANE Select	ENSP00000347717.4:p.Gln277Pro
ENST00000355527.7:c.830A>C	ENSP00000347717.3:p.Gln277Pro
ENST00000407721.6:c.830A>C	ENSP00000384739.2:p.Gln277Pro
ENST00000525137.1:c.197A>C	ENSP00000435956.1:p.Gln66Pro
ENST00000527316.5:c.734A>C	ENSP00000435047.1:p.Gln245Pro
ENST00000533800.5:c.80A>C	ENSP00000435011.1:p.Gln27Pro
ENST00000534701.1:n.325A>C
ENST00000534795.5:c.186A>C
NM_001163817.1:c.830A>C	NP_001157289.1:p.Gln277Pro
NM_001360.2:c.830A>C , LRG_340t1:c.830A>C	NP_001351.2:p.Gln277Pro
XM_011544777.1:c.830A>C	XP_011543079.1:p.Gln277Pro
XM_011544777.2:c.830A>C	XP_011543079.1:p.Gln277Pro
NM_001163817.2:c.830A>C	NP_001157289.1:p.Gln277Pro
NM_001360.3:c.830A>C MANE Select	NP_001351.2:p.Gln277Pro