Canonical Allele Identifier: CA366537647

Gene: CYP2W1 C7orf50

Linked Data

• dbSNP Id: rs1256284133
• gnomAD v2: 7-1022989-C-T
• gnomAD v4: 7-983353-C-T
• MyVariant Identifiers: chr7:g.1022989C>T (hg19) ; chr7:g.983353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.983353C>T , CM000669.2:g.983353C>T	GRCh38
NC_000007.13:g.1022989C>T , CM000669.1:g.1022989C>T	GRCh37
NC_000007.12:g.989515C>T	NCBI36
NG_007934.1:g.5155C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308919.12:c.142C>T (CYP2W1) MANE Select	ENSP00000310149.7:p.Arg48Cys
ENST00000308919.11:c.142C>T (CYP2W1)	ENSP00000310149.7:p.Arg48Cys
NM_017781.2:c.142C>T (CYP2W1)	NP_060251.2:p.Arg48Cys
XM_005249889.3:c.523-4292G>A (C7orf50)	XP_005249946.2:n.523-4292G>A
XM_011515440.1:c.142C>T (CYP2W1)	XP_011513742.1:p.Arg48Cys
XM_011515441.1:c.142C>T (CYP2W1)	XP_011513743.1:p.Arg48Cys
XM_011515580.1:c.1108-4292G>A (C7orf50)	XP_011513882.1:n.1108-4292G>A
XM_011515581.1:c.565-4292G>A (C7orf50)	XP_011513883.1:n.565-4292G>A
XM_011515582.1:c.565-4292G>A (C7orf50)	XP_011513884.1:n.565-4292G>A
XM_011515583.1:c.565-4292G>A (C7orf50)	XP_011513885.1:n.565-4292G>A
XM_011515584.1:c.565-4292G>A (C7orf50)	XP_011513886.1:n.565-4292G>A
NR_156697.1:n.548-4292G>A (C7orf50)
XM_011515440.3:c.142C>T (CYP2W1)	XP_011513742.1:p.Arg48Cys
XM_011515441.3:c.142C>T (CYP2W1)	XP_011513743.1:p.Arg48Cys
XM_011515581.3:c.565-4292G>A (C7orf50)	XP_011513883.1:n.565-4292G>A
XM_011515582.3:c.565-4292G>A (C7orf50)	XP_011513884.1:n.565-4292G>A
XM_011515583.2:c.565-4292G>A (C7orf50)	XP_011513885.1:n.565-4292G>A
XM_011515584.2:c.565-4292G>A (C7orf50)	XP_011513886.1:n.565-4292G>A
XM_017012720.2:c.565-4292G>A (C7orf50)	XP_016868209.1:n.565-4292G>A
XM_017012721.2:c.523-4292G>A (C7orf50)	XP_016868210.1:n.523-4292G>A
NM_017781.3:c.142C>T (CYP2W1) MANE Select	NP_060251.2:p.Arg48Cys
NR_156697.2:n.548-4292G>A (C7orf50)