Canonical Allele Identifier: CA381703173

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1314880
• ClinVar RCV Id: RCV001765921 ; RCV002440863
• dbSNP Id: rs2135941944
• MyVariant Identifiers: chr11:g.71148989C>G (hg19) ; chr11:g.71437943C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437943C>G , CM000673.2:g.71437943C>G	GRCh38
NC_000011.9:g.71148989C>G , CM000673.1:g.71148989C>G	GRCh37
NC_000011.8:g.70826637C>G	NCBI36
NG_012655.2:g.15489G>C , LRG_340:g.15489G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.832G>C	ENSP00000435707.3:p.Ala278Pro
ENST00000526780.6:c.832G>C	ENSP00000435668.2:p.Ala278Pro
ENST00000527316.6:c.658G>C	ENSP00000435047.2:p.Ala220Pro
ENST00000682708.1:c.883G>C	ENSP00000506866.1:p.Ala295Pro
ENST00000682880.1:c.832G>C	ENSP00000507520.1:p.Ala278Pro
ENST00000683287.1:c.868G>C	ENSP00000507607.1:p.Ala290Pro
ENST00000683714.1:c.832G>C	ENSP00000508207.1:p.Ala278Pro
ENST00000684396.1:n.872G>C
ENST00000685320.1:c.247G>C	ENSP00000509319.1:p.Ala83Pro
ENST00000690257.1:c.736G>C	ENSP00000510750.1:p.Ala246Pro
ENST00000355527.8:c.832G>C MANE Select	ENSP00000347717.4:p.Ala278Pro
ENST00000355527.7:c.832G>C	ENSP00000347717.3:p.Ala278Pro
ENST00000407721.6:c.832G>C	ENSP00000384739.2:p.Ala278Pro
ENST00000525137.1:c.199G>C	ENSP00000435956.1:p.Ala67Pro
ENST00000527316.5:c.736G>C	ENSP00000435047.1:p.Ala246Pro
ENST00000533800.5:c.82G>C	ENSP00000435011.1:p.Ala28Pro
ENST00000534795.5:c.188G>C
NM_001163817.1:c.832G>C	NP_001157289.1:p.Ala278Pro
NM_001360.2:c.832G>C , LRG_340t1:c.832G>C	NP_001351.2:p.Ala278Pro
XM_011544777.1:c.832G>C	XP_011543079.1:p.Ala278Pro
XM_011544777.2:c.832G>C	XP_011543079.1:p.Ala278Pro
NM_001163817.2:c.832G>C	NP_001157289.1:p.Ala278Pro
NM_001360.3:c.832G>C MANE Select	NP_001351.2:p.Ala278Pro