Canonical Allele Identifier: CA6162248

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 290040
• ClinVar RCV Id: RCV000333245 ; RCV001085996 ; RCV002317822
• dbSNP Id: rs557097410
• ExAC: 11:71146484 G / A
• gnomAD v2: 11-71146484-G-A
• gnomAD v3: 11-71435438-G-A
• gnomAD v4: 11-71435438-G-A
• COSMIC: COSM4406825 ; COSM4406826
• MyVariant Identifiers: chr11:g.71146484G>A (hg19) ; chr11:g.71435438G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435438G>A , CM000673.2:g.71435438G>A	GRCh38
NC_000011.9:g.71146484G>A , CM000673.1:g.71146484G>A	GRCh37
NC_000011.8:g.70824132G>A	NCBI36
NG_012655.2:g.17994C>T , LRG_340:g.17994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1365C>T	ENSP00000435707.3:p.Tyr455=
ENST00000526780.6:c.1365C>T	ENSP00000435668.2:p.Tyr455=
ENST00000527316.6:c.1191C>T	ENSP00000435047.2:p.Tyr397=
ENST00000682708.1:c.1416C>T	ENSP00000506866.1:p.Tyr472=
ENST00000683287.1:c.1401C>T	ENSP00000507607.1:p.Tyr467=
ENST00000683714.1:c.*128C>T	ENSP00000508207.1:n.*128C>T
ENST00000684396.1:n.1405C>T
ENST00000685320.1:c.780C>T	ENSP00000509319.1:p.Tyr260=
ENST00000690257.1:c.1269C>T	ENSP00000510750.1:p.Tyr423=
ENST00000355527.8:c.1365C>T MANE Select	ENSP00000347717.4:p.Tyr455=
ENST00000355527.7:c.1365C>T	ENSP00000347717.3:p.Tyr455=
ENST00000407721.6:c.1365C>T	ENSP00000384739.2:p.Tyr455=
ENST00000525137.1:c.866C>T	ENSP00000435956.1:n.866C>T
ENST00000533800.5:c.611+4C>T	ENSP00000435011.1:n.611+4C>T
ENST00000534795.5:c.319+2374C>T
NM_001163817.1:c.1365C>T	NP_001157289.1:p.Tyr455=
NM_001360.2:c.1365C>T , LRG_340t1:c.1365C>T	NP_001351.2:p.Tyr455=
XM_011544777.1:c.*128C>T	XP_011543079.1:n.*128C>T
XM_011544777.2:c.*128C>T	XP_011543079.1:n.*128C>T
NM_001163817.2:c.1365C>T	NP_001157289.1:p.Tyr455=
NM_001360.3:c.1365C>T MANE Select	NP_001351.2:p.Tyr455=