Canonical Allele Identifier: CA2614862879

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71443979-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71443979C>T , CM000673.2:g.71443979C>T	GRCh38
NC_000011.9:g.71155025C>T , CM000673.1:g.71155025C>T	GRCh37
NC_000011.8:g.70832673C>T	NCBI36
NG_012655.2:g.9453G>A , LRG_340:g.9453G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.321+14G>A	ENSP00000435707.3:n.321+14G>A
ENST00000526780.6:c.321+14G>A	ENSP00000435668.2:n.321+14G>A
ENST00000527316.6:c.147+14G>A	ENSP00000435047.2:n.147+14G>A
ENST00000682708.1:c.321+14G>A	ENSP00000506866.1:n.321+14G>A
ENST00000682880.1:c.321+14G>A	ENSP00000507520.1:n.321+14G>A
ENST00000683287.1:c.335G>A	ENSP00000507607.1:p.Cys112Tyr
ENST00000683714.1:c.321+14G>A	ENSP00000508207.1:n.321+14G>A
ENST00000683874.1:n.598+14G>A
ENST00000685320.1:c.-265+14G>A	ENSP00000509319.1:n.-265+14G>A
ENST00000690257.1:c.225+14G>A	ENSP00000510750.1:n.225+14G>A
ENST00000355527.8:c.321+14G>A MANE Select	ENSP00000347717.4:n.321+14G>A
ENST00000355527.7:c.321+14G>A	ENSP00000347717.3:n.321+14G>A
ENST00000407721.6:c.321+14G>A	ENSP00000384739.2:n.321+14G>A
ENST00000526780.5:c.321+14G>A	ENSP00000435668.1:n.321+14G>A
ENST00000527316.5:c.225+14G>A	ENSP00000435047.1:n.225+14G>A
NM_001163817.1:c.321+14G>A	NP_001157289.1:n.321+14G>A
NM_001360.2:c.321+14G>A , LRG_340t1:c.321+14G>A	NP_001351.2:n.321+14G>A
XM_011544777.1:c.321+14G>A	XP_011543079.1:n.321+14G>A
XM_011544777.2:c.321+14G>A	XP_011543079.1:n.321+14G>A
NM_001163817.2:c.321+14G>A	NP_001157289.1:n.321+14G>A
NM_001360.3:c.321+14G>A MANE Select	NP_001351.2:n.321+14G>A