Canonical Allele Identifier: CA381694941

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1066908
• ClinVar RCV Id: RCV001378034
• dbSNP Id: rs2135945513
• MyVariant Identifiers: chr11:g.71153347T>C (hg19) ; chr11:g.71442301T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71442301T>C , CM000673.2:g.71442301T>C	GRCh38
NC_000011.9:g.71153347T>C , CM000673.1:g.71153347T>C	GRCh37
NC_000011.8:g.70830995T>C	NCBI36
NG_012655.2:g.11131A>G , LRG_340:g.11131A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.374A>G	ENSP00000435707.3:p.Tyr125Cys
ENST00000526780.6:c.374A>G	ENSP00000435668.2:p.Tyr125Cys
ENST00000527316.6:c.200A>G	ENSP00000435047.2:p.Tyr67Cys
ENST00000682708.1:c.374A>G	ENSP00000506866.1:p.Tyr125Cys
ENST00000682880.1:c.374A>G	ENSP00000507520.1:p.Tyr125Cys
ENST00000683287.1:c.410A>G	ENSP00000507607.1:p.Tyr137Cys
ENST00000683714.1:c.374A>G	ENSP00000508207.1:p.Tyr125Cys
ENST00000683874.1:n.651A>G
ENST00000685320.1:c.-212A>G	ENSP00000509319.1:n.-212A>G
ENST00000690257.1:c.278A>G	ENSP00000510750.1:p.Tyr93Cys
ENST00000355527.8:c.374A>G MANE Select	ENSP00000347717.4:p.Tyr125Cys
ENST00000355527.7:c.374A>G	ENSP00000347717.3:p.Tyr125Cys
ENST00000407721.6:c.374A>G	ENSP00000384739.2:p.Tyr125Cys
ENST00000526780.5:c.374A>G	ENSP00000435668.1:p.Tyr125Cys
ENST00000527316.5:c.278A>G	ENSP00000435047.1:p.Tyr93Cys
NM_001163817.1:c.374A>G	NP_001157289.1:p.Tyr125Cys
NM_001360.2:c.374A>G , LRG_340t1:c.374A>G	NP_001351.2:p.Tyr125Cys
XM_011544777.1:c.374A>G	XP_011543079.1:p.Tyr125Cys
XM_011544777.2:c.374A>G	XP_011543079.1:p.Tyr125Cys
NM_001163817.2:c.374A>G	NP_001157289.1:p.Tyr125Cys
NM_001360.3:c.374A>G MANE Select	NP_001351.2:p.Tyr125Cys