Canonical Allele Identifier: CA221647

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 93706
• ClinVar RCV Id: RCV000079638 ; RCV000585931 ; RCV001027947 ; RCV002313764 ; RCV003915058
• dbSNP Id: rs72954276
• ExAC: 11:71146837 C / T
• gnomAD v2: 11-71146837-C-T
• gnomAD v3: 11-71435791-C-T
• gnomAD v4: 11-71435791-C-T
• MyVariant Identifiers: chr11:g.71146837C>T (hg19) ; chr11:g.71435791C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435791C>T , CM000673.2:g.71435791C>T	GRCh38
NC_000011.9:g.71146837C>T , CM000673.1:g.71146837C>T	GRCh37
NC_000011.8:g.70824485C>T	NCBI36
NG_012655.2:g.17641G>A , LRG_340:g.17641G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1012G>A	ENSP00000435707.3:p.Val338Met
ENST00000526780.6:c.1012G>A	ENSP00000435668.2:p.Val338Met
ENST00000527316.6:c.838G>A	ENSP00000435047.2:p.Val280Met
ENST00000682708.1:c.1063G>A	ENSP00000506866.1:p.Val355Met
ENST00000683287.1:c.1048G>A	ENSP00000507607.1:p.Val350Met
ENST00000683714.1:c.1020G>A	ENSP00000508207.1:p.Pro340=
ENST00000684396.1:n.1052G>A
ENST00000685320.1:c.427G>A	ENSP00000509319.1:p.Val143Met
ENST00000690257.1:c.916G>A	ENSP00000510750.1:p.Val306Met
ENST00000355527.8:c.1012G>A MANE Select	ENSP00000347717.4:p.Val338Met
ENST00000355527.7:c.1012G>A	ENSP00000347717.3:p.Val338Met
ENST00000407721.6:c.1012G>A	ENSP00000384739.2:p.Val338Met
ENST00000525137.1:c.513G>A	ENSP00000435956.1:p.Pro171=
ENST00000533800.5:c.262G>A	ENSP00000435011.1:p.Val88Met
ENST00000534795.5:c.319+2021G>A
NM_001163817.1:c.1012G>A	NP_001157289.1:p.Val338Met
NM_001360.2:c.1012G>A , LRG_340t1:c.1012G>A	NP_001351.2:p.Val338Met
XM_011544777.1:c.1146G>A	XP_011543079.1:p.Pro382=
XM_011544777.2:c.1146G>A	XP_011543079.1:p.Pro382=
NM_001163817.2:c.1012G>A	NP_001157289.1:p.Val338Met
NM_001360.3:c.1012G>A MANE Select	NP_001351.2:p.Val338Met