Canonical Allele Identifier: CA358950221
Gene: CYP4V2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186208943G>T
GRCh37 chr4:g.187130097G>T
Revel Score:
ENST00000378802 (MANE Select) 0.969
ENST00000274118 0.969
gnomAD v2:
4:187130097 G / T
gnomAD v4:
chr4-186208943-G-T
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar Allele:
790462
ClinVar RCV:
RCV000987493
RCV001869345
ClinVar Variation:
802105
dbSNP:
199476201
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208943G>T , CM000666.2:g.186208943G>T GRCh38
NC_000004.11:g.187130097G>T , CM000666.1:g.187130097G>T GRCh37
NC_000004.10:g.187367091G>T NCBI36
NG_007965.1:g.22424G>T
NG_012095.2:g.4965G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1169G>T MANE Select ENSP00000368079.4:p.Arg390Leu
ENST00000378802.4:c.1169G>T ENSP00000368079.4:p.Arg390Leu
ENST00000502665.1:n.404G>T
ENST00000507209.5:n.5867G>T
ENST00000513354.5:n.259G>T
NM_207352.3:c.1169G>T NP_997235.3:p.Arg390Leu
XM_005262935.2:c.1169G>T XP_005262992.1:p.Arg390Leu
XM_006714184.2:c.773G>T XP_006714247.1:p.Arg258Leu
XM_005262935.4:c.1169G>T XP_005262992.1:p.Arg390Leu
XM_017008037.1:c.773G>T XP_016863526.1:p.Arg258Leu
NM_207352.4:c.1169G>T MANE Select NP_997235.3:p.Arg390Leu
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