Canonical Allele Identifier: CA3162655

Gene: CYP4V2

Linked Data

• dbSNP Id: rs777920575
• ExAC: 4:187120287 T / G
• gnomAD v2: 4-187120287-T-G
• gnomAD v4: 4-186199133-T-G
• MyVariant Identifiers: chr4:g.187120287T>G (hg19) ; chr4:g.186199133T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186199133T>G , CM000666.2:g.186199133T>G	GRCh38
NC_000004.11:g.187120287T>G , CM000666.1:g.187120287T>G	GRCh37
NC_000004.10:g.187357281T>G	NCBI36
NG_007965.1:g.12614T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.801+50T>G MANE Select	ENSP00000368079.4:n.801+50T>G
ENST00000378802.4:c.801+50T>G	ENSP00000368079.4:n.801+50T>G
ENST00000507209.5:n.1642+50T>G
NM_207352.3:c.801+50T>G	NP_997235.3:n.801+50T>G
XM_005262935.2:c.801+50T>G	XP_005262992.1:n.801+50T>G
XM_006714184.2:c.405+50T>G	XP_006714247.1:n.405+50T>G
XM_005262935.4:c.801+50T>G	XP_005262992.1:n.801+50T>G
XM_017008037.1:c.405+50T>G	XP_016863526.1:n.405+50T>G
NM_207352.4:c.801+50T>G MANE Select	NP_997235.3:n.801+50T>G