Canonical Allele Identifier: CA381702673

Gene: DHCR7

Linked Data

• dbSNP Id: rs1263256878
• gnomAD v3: 11-71435883-G-A
• gnomAD v4: 11-71435883-G-A
• MyVariant Identifiers: chr11:g.71146929G>A (hg19) ; chr11:g.71435883G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435883G>A , CM000673.2:g.71435883G>A	GRCh38
NC_000011.9:g.71146929G>A , CM000673.1:g.71146929G>A	GRCh37
NC_000011.8:g.70824577G>A	NCBI36
NG_012655.2:g.17549C>T , LRG_340:g.17549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.964-44C>T	ENSP00000435707.3:n.964-44C>T
ENST00000526780.6:c.964-44C>T	ENSP00000435668.2:n.964-44C>T
ENST00000527316.6:c.790-44C>T	ENSP00000435047.2:n.790-44C>T
ENST00000682708.1:c.1015-44C>T	ENSP00000506866.1:n.1015-44C>T
ENST00000683287.1:c.1000-44C>T	ENSP00000507607.1:n.1000-44C>T
ENST00000683714.1:c.972-44C>T	ENSP00000508207.1:n.972-44C>T
ENST00000684396.1:n.1004-44C>T
ENST00000685320.1:c.379-44C>T	ENSP00000509319.1:n.379-44C>T
ENST00000690257.1:c.868-44C>T	ENSP00000510750.1:n.868-44C>T
ENST00000355527.8:c.964-44C>T MANE Select	ENSP00000347717.4:n.964-44C>T
ENST00000355527.7:c.964-44C>T	ENSP00000347717.3:n.964-44C>T
ENST00000407721.6:c.964-44C>T	ENSP00000384739.2:n.964-44C>T
ENST00000525137.1:c.421C>T	ENSP00000435956.1:p.Pro141Ser
ENST00000533800.5:c.214-44C>T	ENSP00000435011.1:n.214-44C>T
ENST00000534795.5:c.319+1929C>T
NM_001163817.1:c.964-44C>T	NP_001157289.1:n.964-44C>T
NM_001360.2:c.964-44C>T , LRG_340t1:c.964-44C>T	NP_001351.2:n.964-44C>T
XM_011544777.1:c.1054C>T	XP_011543079.1:p.Pro352Ser
XM_011544777.2:c.1054C>T	XP_011543079.1:p.Pro352Ser
NM_001163817.2:c.964-44C>T	NP_001157289.1:n.964-44C>T
NM_001360.3:c.964-44C>T MANE Select	NP_001351.2:n.964-44C>T