Canonical Allele Identifier: CA381700700

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146503T>A (hg19) ; chr11:g.71435457T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435457T>A , CM000673.2:g.71435457T>A	GRCh38
NC_000011.9:g.71146503T>A , CM000673.1:g.71146503T>A	GRCh37
NC_000011.8:g.70824151T>A	NCBI36
NG_012655.2:g.17975A>T , LRG_340:g.17975A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1346A>T	ENSP00000435707.3:p.His449Leu
ENST00000526780.6:c.1346A>T	ENSP00000435668.2:p.His449Leu
ENST00000527316.6:c.1172A>T	ENSP00000435047.2:p.His391Leu
ENST00000682708.1:c.1397A>T	ENSP00000506866.1:p.His466Leu
ENST00000683287.1:c.1382A>T	ENSP00000507607.1:p.His461Leu
ENST00000683714.1:c.*109A>T	ENSP00000508207.1:n.*109A>T
ENST00000684396.1:n.1386A>T
ENST00000685320.1:c.761A>T	ENSP00000509319.1:p.His254Leu
ENST00000690257.1:c.1250A>T	ENSP00000510750.1:p.His417Leu
ENST00000355527.8:c.1346A>T MANE Select	ENSP00000347717.4:p.His449Leu
ENST00000355527.7:c.1346A>T	ENSP00000347717.3:p.His449Leu
ENST00000407721.6:c.1346A>T	ENSP00000384739.2:p.His449Leu
ENST00000525137.1:c.847A>T	ENSP00000435956.1:n.847A>T
ENST00000533800.5:c.596A>T	ENSP00000435011.1:p.His199Leu
ENST00000534795.5:c.319+2355A>T
NM_001163817.1:c.1346A>T	NP_001157289.1:p.His449Leu
NM_001360.2:c.1346A>T , LRG_340t1:c.1346A>T	NP_001351.2:p.His449Leu
XM_011544777.1:c.*109A>T	XP_011543079.1:n.*109A>T
XM_011544777.2:c.*109A>T	XP_011543079.1:n.*109A>T
NM_001163817.2:c.1346A>T	NP_001157289.1:p.His449Leu
NM_001360.3:c.1346A>T MANE Select	NP_001351.2:p.His449Leu