Canonical Allele Identifier: CA557054502

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1385421865
• gnomAD v2: 4-187125795-A-G
• gnomAD v3: 4-186204641-A-G
• gnomAD v4: 4-186204641-A-G
• MyVariant Identifiers: chr4:g.187125795A>G (hg19) ; chr4:g.186204641A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186204641A>G , CM000666.2:g.186204641A>G	GRCh38
NC_000004.11:g.187125795A>G , CM000666.1:g.187125795A>G	GRCh37
NC_000004.10:g.187362789A>G	NCBI36
NG_007965.1:g.18122A>G
NG_012095.2:g.663A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.988-559A>G MANE Select	ENSP00000368079.4:n.988-559A>G
ENST00000378802.4:c.988-559A>G	ENSP00000368079.4:n.988-559A>G
ENST00000507209.5:n.5127A>G
ENST00000513354.5:n.77+184A>G
NM_207352.3:c.988-559A>G	NP_997235.3:n.988-559A>G
XM_005262935.2:c.988-559A>G	XP_005262992.1:n.988-559A>G
XM_006714184.2:c.592-559A>G	XP_006714247.1:n.592-559A>G
XM_005262935.4:c.988-559A>G	XP_005262992.1:n.988-559A>G
XM_017008037.1:c.592-559A>G	XP_016863526.1:n.592-559A>G
NM_207352.4:c.988-559A>G MANE Select	NP_997235.3:n.988-559A>G