Canonical Allele Identifier: CA3162758
Gene: CYP4V2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186208861T>A
GRCh37 chr4:g.187130015T>A
gnomAD v2:
4:187130015 T / A
gnomAD v3:
4:186208861 T / A
gnomAD v4:
chr4-186208861-T-A
Joint Max Group AF 0.0384632 (AFR)
Genomes Max Group AF 0.03771745 (AFR)
Exomes Max Group AF 0.03830071 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208861T>A , CM000666.2:g.186208861T>A GRCh38
NC_000004.11:g.187130015T>A , CM000666.1:g.187130015T>A GRCh37
NC_000004.10:g.187367009T>A NCBI36
NG_007965.1:g.22342T>A
NG_012095.2:g.4883T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1091-4T>A MANE Select ENSP00000368079.4:n.1091-4T>A
ENST00000378802.4:c.1091-4T>A ENSP00000368079.4:n.1091-4T>A
ENST00000502665.1:n.326-4T>A
ENST00000507209.5:n.5789-4T>A
ENST00000513354.5:n.181-4T>A
NM_207352.3:c.1091-4T>A NP_997235.3:n.1091-4T>A
XM_005262935.2:c.1091-4T>A XP_005262992.1:n.1091-4T>A
XM_006714184.2:c.695-4T>A XP_006714247.1:n.695-4T>A
XM_005262935.4:c.1091-4T>A XP_005262992.1:n.1091-4T>A
XM_017008037.1:c.695-4T>A XP_016863526.1:n.695-4T>A
NM_207352.4:c.1091-4T>A MANE Select NP_997235.3:n.1091-4T>A
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