Canonical Allele Identifier: CA442881944

Gene: CYP4V2

Linked Data

• MyVariant Identifiers: chr4:g.187130071G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208917G>C , CM000666.2:g.186208917G>C	GRCh38
NC_000004.11:g.187130071G>C , CM000666.1:g.187130071G>C	GRCh37
NC_000004.10:g.187367065G>C	NCBI36
NG_007965.1:g.22398G>C
NG_012095.2:g.4939G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1143G>C MANE Select	ENSP00000368079.4:p.Leu381=
ENST00000378802.4:c.1143G>C	ENSP00000368079.4:p.Leu381=
ENST00000502665.1:n.378G>C
ENST00000507209.5:n.5841G>C
ENST00000513354.5:n.233G>C
NM_207352.3:c.1143G>C	NP_997235.3:p.Leu381=
XM_005262935.2:c.1143G>C	XP_005262992.1:p.Leu381=
XM_006714184.2:c.747G>C	XP_006714247.1:p.Leu249=
XM_005262935.4:c.1143G>C	XP_005262992.1:p.Leu381=
XM_017008037.1:c.747G>C	XP_016863526.1:p.Leu249=
NM_207352.4:c.1143G>C MANE Select	NP_997235.3:p.Leu381=