Canonical Allele Identifier: CA3162767

Gene: CYP4V2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208894G>T , CM000666.2:g.186208894G>T	GRCh38
NC_000004.11:g.187130048G>T , CM000666.1:g.187130048G>T	GRCh37
NC_000004.10:g.187367042G>T	NCBI36
NG_007965.1:g.22375G>T
NG_012095.2:g.4916G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_207352.4:c.1120G>T MANE Select	NP_997235.3:p.Asp374Tyr
ENST00000378802.5:c.1120G>T MANE Select	ENSP00000368079.4:p.Asp374Tyr
NM_207352.3:c.1120G>T	NP_997235.3:p.Asp374Tyr
ENST00000378802.4:c.1120G>T	ENSP00000368079.4:p.Asp374Tyr
ENST00000502665.1:n.355G>T
ENST00000507209.5:n.5818G>T
ENST00000513354.5:n.210G>T
XM_005262935.2:c.1120G>T	XP_005262992.1:p.Asp374Tyr
XM_005262935.4:c.1120G>T	XP_005262992.1:p.Asp374Tyr
XM_006714184.2:c.724G>T	XP_006714247.1:p.Asp242Tyr
XM_017008037.1:c.724G>T	XP_016863526.1:p.Asp242Tyr