Canonical Allele Identifier: CA4114256
Gene: CYP2W1 HGNC NCBI
C7orf50 HGNC NCBI

Linked Data

ClinVar Variation Id: 2269464
ClinVar RCV Id: RCV004123363
dbSNP Id: rs764341789
gnomAD v2: 7-1023017-T-C
gnomAD v3: 7-983381-T-C
gnomAD v4: 7-983381-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.983381T>C , CM000669.2:g.983381T>C GRCh38
NC_000007.13:g.1023017T>C , CM000669.1:g.1023017T>C GRCh37
NC_000007.12:g.989543T>C NCBI36
NG_007934.1:g.5183T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308919.12:c.170T>C (CYP2W1) MANE Select ENSP00000310149.7:p.Met57Thr
ENST00000308919.11:c.170T>C (CYP2W1) ENSP00000310149.7:p.Met57Thr
ENST00000340150.10:c.2T>C (CYP2W1) ENSP00000344178.6:p.Met1Thr
NM_017781.2:c.170T>C (CYP2W1) NP_060251.2:p.Met57Thr
XM_005249889.3:c.523-4320A>G (C7orf50) XP_005249946.2:n.523-4320A>G
XM_011515440.1:c.170T>C (CYP2W1) XP_011513742.1:p.Met57Thr
XM_011515441.1:c.170T>C (CYP2W1) XP_011513743.1:p.Met57Thr
XM_011515580.1:c.1108-4320A>G (C7orf50) XP_011513882.1:n.1108-4320A>G
XM_011515581.1:c.565-4320A>G (C7orf50) XP_011513883.1:n.565-4320A>G
XM_011515582.1:c.565-4320A>G (C7orf50) XP_011513884.1:n.565-4320A>G
XM_011515583.1:c.565-4320A>G (C7orf50) XP_011513885.1:n.565-4320A>G
XM_011515584.1:c.565-4320A>G (C7orf50) XP_011513886.1:n.565-4320A>G
NR_156697.1:n.548-4320A>G (C7orf50)
XM_011515440.3:c.170T>C (CYP2W1) XP_011513742.1:p.Met57Thr
XM_011515441.3:c.170T>C (CYP2W1) XP_011513743.1:p.Met57Thr
XM_011515581.3:c.565-4320A>G (C7orf50) XP_011513883.1:n.565-4320A>G
XM_011515582.3:c.565-4320A>G (C7orf50) XP_011513884.1:n.565-4320A>G
XM_011515583.2:c.565-4320A>G (C7orf50) XP_011513885.1:n.565-4320A>G
XM_011515584.2:c.565-4320A>G (C7orf50) XP_011513886.1:n.565-4320A>G
XM_017012720.2:c.565-4320A>G (C7orf50) XP_016868209.1:n.565-4320A>G
XM_017012721.2:c.523-4320A>G (C7orf50) XP_016868210.1:n.523-4320A>G
NM_017781.3:c.170T>C (CYP2W1) MANE Select NP_060251.2:p.Met57Thr
NR_156697.2:n.548-4320A>G (C7orf50)