Canonical Allele Identifier: CA6162239

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 265097
• ClinVar RCV Id: RCV000255209 ; RCV000536496
• dbSNP Id: rs760428437
• ExAC: 11:71146453 C / T
• gnomAD v2: 11-71146453-C-T
• gnomAD v3: 11-71435407-C-T
• gnomAD v4: 11-71435407-C-T
• COSMIC: COSM2044457 ; COSM2044458
• MyVariant Identifiers: chr11:g.71146453C>T (hg19) ; chr11:g.71435407C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435407C>T , CM000673.2:g.71435407C>T	GRCh38
NC_000011.9:g.71146453C>T , CM000673.1:g.71146453C>T	GRCh37
NC_000011.8:g.70824101C>T	NCBI36
NG_012655.2:g.18025G>A , LRG_340:g.18025G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1396G>A	ENSP00000435707.3:p.Val466Met
ENST00000526780.6:c.1396G>A	ENSP00000435668.2:p.Val466Met
ENST00000527316.6:c.1222G>A	ENSP00000435047.2:p.Val408Met
ENST00000682708.1:c.1447G>A	ENSP00000506866.1:p.Val483Met
ENST00000683287.1:c.1432G>A	ENSP00000507607.1:p.Val478Met
ENST00000683714.1:c.*159G>A	ENSP00000508207.1:n.*159G>A
ENST00000684396.1:n.1436G>A
ENST00000685320.1:c.811G>A	ENSP00000509319.1:p.Val271Met
ENST00000690257.1:c.1300G>A	ENSP00000510750.1:p.Val434Met
ENST00000355527.8:c.1396G>A MANE Select	ENSP00000347717.4:p.Val466Met
ENST00000355527.7:c.1396G>A	ENSP00000347717.3:p.Val466Met
ENST00000407721.6:c.1396G>A	ENSP00000384739.2:p.Val466Met
ENST00000525137.1:c.897G>A	ENSP00000435956.1:n.897G>A
ENST00000533800.5:c.611+35G>A	ENSP00000435011.1:n.611+35G>A
ENST00000534795.5:c.319+2405G>A
NM_001163817.1:c.1396G>A	NP_001157289.1:p.Val466Met
NM_001360.2:c.1396G>A , LRG_340t1:c.1396G>A	NP_001351.2:p.Val466Met
XM_011544777.1:c.*159G>A	XP_011543079.1:n.*159G>A
XM_011544777.2:c.*159G>A	XP_011543079.1:n.*159G>A
NM_001163817.2:c.1396G>A	NP_001157289.1:p.Val466Met
NM_001360.3:c.1396G>A MANE Select	NP_001351.2:p.Val466Met