Canonical Allele Identifier: CA179962

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 166980
• ClinVar RCV Id: RCV000153135 ; RCV000321446 ; RCV000378377
• dbSNP Id: rs76978024
• ExAC: 4:187131799 T / C
• gnomAD: 4:187131799 T / C
• MyVariant Identifiers: chr4:g.187131799T>C (hg19) ; chr4:g.186210645T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210645T>C , CM000666.2:g.186210645T>C	GRCh38
NC_000004.11:g.187131799T>C , CM000666.1:g.187131799T>C	GRCh37
NC_000004.10:g.187368793T>C	NCBI36
NG_007965.1:g.24126T>C
NG_012095.2:g.6667T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.*4T>C MANE Select	ENSP00000368079.4:p.=
ENST00000378802.4:c.*4T>C	ENSP00000368079.4:p.=
ENST00000502665.1:n.817T>C
ENST00000507209.5:n.6280T>C
ENST00000511608.5:n.201+1373T>C
ENST00000513354.5:n.672T>C
NM_207352.3:c.*4T>C	NP_997235.3:p.=
XM_005262935.2:c.*4T>C	XP_005262992.1:p.=
XM_006714184.2:c.*4T>C	XP_006714247.1:p.=
XM_005262935.4:c.*4T>C	XP_005262992.1:p.=
XM_017008037.1:c.*4T>C	XP_016863526.1:p.=
NM_207352.4:c.*4T>C MANE Select	NP_997235.3:p.=