Canonical Allele Identifier: CA224324629

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 554780
• ClinVar RCV Id: RCV000670470
• dbSNP Id: rs199957106
• gnomAD v3: 11-71435778-A-G
• gnomAD v4: 11-71435778-A-G
• MyVariant Identifiers: chr11:g.71146824A>G (hg19) ; chr11:g.71435778A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435778A>G , CM000673.2:g.71435778A>G	GRCh38
NC_000011.9:g.71146824A>G , CM000673.1:g.71146824A>G	GRCh37
NC_000011.8:g.70824472A>G	NCBI36
NG_012655.2:g.17654T>C , LRG_340:g.17654T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1025T>C	ENSP00000435707.3:p.Leu342Pro
ENST00000526780.6:c.1025T>C	ENSP00000435668.2:p.Leu342Pro
ENST00000527316.6:c.851T>C	ENSP00000435047.2:p.Leu284Pro
ENST00000682708.1:c.1076T>C	ENSP00000506866.1:p.Leu359Pro
ENST00000683287.1:c.1061T>C	ENSP00000507607.1:p.Leu354Pro
ENST00000683714.1:c.1033T>C	ENSP00000508207.1:p.Cys345Arg
ENST00000684396.1:n.1065T>C
ENST00000685320.1:c.440T>C	ENSP00000509319.1:p.Leu147Pro
ENST00000690257.1:c.929T>C	ENSP00000510750.1:p.Leu310Pro
ENST00000355527.8:c.1025T>C MANE Select	ENSP00000347717.4:p.Leu342Pro
ENST00000355527.7:c.1025T>C	ENSP00000347717.3:p.Leu342Pro
ENST00000407721.6:c.1025T>C	ENSP00000384739.2:p.Leu342Pro
ENST00000525137.1:c.526T>C	ENSP00000435956.1:p.Cys176Arg
ENST00000533800.5:c.275T>C	ENSP00000435011.1:p.Leu92Pro
ENST00000534795.5:c.319+2034T>C
NM_001163817.1:c.1025T>C	NP_001157289.1:p.Leu342Pro
NM_001360.2:c.1025T>C , LRG_340t1:c.1025T>C	NP_001351.2:p.Leu342Pro
XM_011544777.1:c.1159T>C	XP_011543079.1:p.Cys387Arg
XM_011544777.2:c.1159T>C	XP_011543079.1:p.Cys387Arg
NM_001163817.2:c.1025T>C	NP_001157289.1:p.Leu342Pro
NM_001360.3:c.1025T>C MANE Select	NP_001351.2:p.Leu342Pro