Canonical Allele Identifier: CA381702131

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 553336
• ClinVar RCV Id: RCV000668758
• dbSNP Id: rs1555145619
• MyVariant Identifiers: chr11:g.71146770A>G (hg19) ; chr11:g.71435724A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435724A>G , CM000673.2:g.71435724A>G	GRCh38
NC_000011.9:g.71146770A>G , CM000673.1:g.71146770A>G	GRCh37
NC_000011.8:g.70824418A>G	NCBI36
NG_012655.2:g.17708T>C , LRG_340:g.17708T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1079T>C	ENSP00000435707.3:p.Leu360Pro
ENST00000526780.6:c.1079T>C	ENSP00000435668.2:p.Leu360Pro
ENST00000527316.6:c.905T>C	ENSP00000435047.2:p.Leu302Pro
ENST00000682708.1:c.1130T>C	ENSP00000506866.1:p.Leu377Pro
ENST00000683287.1:c.1115T>C	ENSP00000507607.1:p.Leu372Pro
ENST00000683714.1:c.1087T>C	ENSP00000508207.1:p.Cys363Arg
ENST00000684396.1:n.1119T>C
ENST00000685320.1:c.494T>C	ENSP00000509319.1:p.Leu165Pro
ENST00000690257.1:c.983T>C	ENSP00000510750.1:p.Leu328Pro
ENST00000355527.8:c.1079T>C MANE Select	ENSP00000347717.4:p.Leu360Pro
ENST00000355527.7:c.1079T>C	ENSP00000347717.3:p.Leu360Pro
ENST00000407721.6:c.1079T>C	ENSP00000384739.2:p.Leu360Pro
ENST00000525137.1:c.580T>C	ENSP00000435956.1:p.Cys194Arg
ENST00000533800.5:c.329T>C	ENSP00000435011.1:p.Leu110Pro
ENST00000534795.5:c.319+2088T>C
NM_001163817.1:c.1079T>C	NP_001157289.1:p.Leu360Pro
NM_001360.2:c.1079T>C , LRG_340t1:c.1079T>C	NP_001351.2:p.Leu360Pro
XM_011544777.1:c.1213T>C	XP_011543079.1:p.Cys405Arg
XM_011544777.2:c.1213T>C	XP_011543079.1:p.Cys405Arg
NM_001163817.2:c.1079T>C	NP_001157289.1:p.Leu360Pro
NM_001360.3:c.1079T>C MANE Select	NP_001351.2:p.Leu360Pro