Canonical Allele Identifier: CA358949379

Gene: CYP4V2

Linked Data

• gnomAD v4: 4-186205257-C-G
• MyVariant Identifiers: chr4:g.187126411C>G (hg19) ; chr4:g.186205257C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205257C>G , CM000666.2:g.186205257C>G	GRCh38
NC_000004.11:g.187126411C>G , CM000666.1:g.187126411C>G	GRCh37
NC_000004.10:g.187363405C>G	NCBI36
NG_007965.1:g.18738C>G
NG_012095.2:g.1279C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1045C>G MANE Select	ENSP00000368079.4:p.Pro349Ala
ENST00000378802.4:c.1045C>G	ENSP00000368079.4:p.Pro349Ala
ENST00000502665.1:n.280C>G
ENST00000507209.5:n.5743C>G
ENST00000513354.5:n.135C>G
NM_207352.3:c.1045C>G	NP_997235.3:p.Pro349Ala
XM_005262935.2:c.1045C>G	XP_005262992.1:p.Pro349Ala
XM_006714184.2:c.649C>G	XP_006714247.1:p.Pro217Ala
XM_005262935.4:c.1045C>G	XP_005262992.1:p.Pro349Ala
XM_017008037.1:c.649C>G	XP_016863526.1:p.Pro217Ala
NM_207352.4:c.1045C>G MANE Select	NP_997235.3:p.Pro349Ala