Canonical Allele Identifier: CA3162475

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 1515785
• ClinVar RCV Id: RCV002023454
• dbSNP Id: rs751069999
• ExAC: 4:187115656 T / G
• gnomAD v2: 4-187115656-T-G
• gnomAD v3: 4-186194502-T-G
• gnomAD v4: 4-186194502-T-G
• MyVariant Identifiers: chr4:g.187115656T>G (hg19) ; chr4:g.186194502T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186194502T>G , CM000666.2:g.186194502T>G	GRCh38
NC_000004.11:g.187115656T>G , CM000666.1:g.187115656T>G	GRCh37
NC_000004.10:g.187352650T>G	NCBI36
NG_007965.1:g.7983T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.217T>G MANE Select	ENSP00000368079.4:p.Phe73Val
ENST00000378802.4:c.217T>G	ENSP00000368079.4:p.Phe73Val
NM_207352.3:c.217T>G	NP_997235.3:p.Phe73Val
XM_005262935.2:c.217T>G	XP_005262992.1:p.Phe73Val
XM_005262935.4:c.217T>G	XP_005262992.1:p.Phe73Val
XM_017008037.1:c.-94T>G	XP_016863526.1:n.-94T>G
NM_207352.4:c.217T>G MANE Select	NP_997235.3:p.Phe73Val