Canonical Allele Identifier: CA3162634

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 1054346
• ClinVar RCV Id: RCV001362833
• dbSNP Id: rs759932318
• ExAC: 4:187120119 AGAT / A
• gnomAD v2: 4-187120119-AGAT-A
• gnomAD v4: 4-186198965-AGAT-A
• MyVariant Identifiers: chr4:g.187120120_187120122del (hg19) ; chr4:g.186198966_186198968del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186198969_186198971del , CM000666.2:g.186198969_186198971del	GRCh38
NC_000004.11:g.187120123_187120125del , CM000666.1:g.187120123_187120125del	GRCh37
NC_000004.10:g.187357117_187357119del	NCBI36
NG_007965.1:g.12450_12452del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.687_689del MANE Select	ENSP00000368079.4:p.Met229del
ENST00000378802.4:c.687_689del	ENSP00000368079.4:p.Met229del
ENST00000507209.5:n.1528_1530del
NM_207352.3:c.687_689del	NP_997235.3:p.Met229del
XM_005262935.2:c.687_689del	XP_005262992.1:p.Met229del
XM_006714184.2:c.291_293del	XP_006714247.1:p.Met97del
XM_005262935.4:c.687_689del	XP_005262992.1:p.Met229del
XM_017008037.1:c.291_293del	XP_016863526.1:p.Met97del
NM_207352.4:c.687_689del MANE Select	NP_997235.3:p.Met229del