Canonical Allele Identifier: CA3162485
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1101382
ClinVar RCV Id: RCV001424312
dbSNP Id: rs201610304
ExAC: 4:187115703 G / A
gnomAD v2: 4-187115703-G-A
gnomAD v3: 4-186194549-G-A
gnomAD v4: 4-186194549-G-A
COSMIC: COSM1053895
MyVariant Identifiers: chr4:g.187115703G>A (hg19) chr4:g.186194549G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194549G>A , CM000666.2:g.186194549G>A GRCh38
NC_000004.11:g.187115703G>A , CM000666.1:g.187115703G>A GRCh37
NC_000004.10:g.187352697G>A NCBI36
NG_007965.1:g.8030G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.264G>A MANE Select ENSP00000368079.4:p.Pro88=
ENST00000378802.4:c.264G>A ENSP00000368079.4:p.Pro88=
NM_207352.3:c.264G>A NP_997235.3:p.Pro88=
XM_005262935.2:c.264G>A XP_005262992.1:p.Pro88=
XM_006714184.2:c.-47G>A XP_006714247.1:n.-47G>A
XM_005262935.4:c.264G>A XP_005262992.1:p.Pro88=
XM_017008037.1:c.-47G>A XP_016863526.1:n.-47G>A
NM_207352.4:c.264G>A MANE Select NP_997235.3:p.Pro88=
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