Canonical Allele Identifier: CA343710
Gene: CYP4V2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186208961C>T
GRCh37 chr4:g.187130115C>T
Revel Score:
ENST00000378802 (MANE Select) 0.878
ENST00000274118 0.878
gnomAD v2:
4:187130115 C / T
gnomAD v3:
4:186208961 C / T
gnomAD v4:
chr4-186208961-C-T
Joint Max Group AF 0.00000738 (EAS)
ClinVar RCV:
RCV000032529
RCV001852654
ClinVar Variation:
39252
dbSNP:
199476202
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208961C>T , CM000666.2:g.186208961C>T GRCh38
NC_000004.11:g.187130115C>T , CM000666.1:g.187130115C>T GRCh37
NC_000004.10:g.187367109C>T NCBI36
NG_007965.1:g.22442C>T
NG_012095.2:g.4983C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1187C>T MANE Select ENSP00000368079.4:p.Pro396Leu
ENST00000378802.4:c.1187C>T ENSP00000368079.4:p.Pro396Leu
ENST00000502665.1:n.422C>T
ENST00000507209.5:n.5885C>T
ENST00000513354.5:n.277C>T
NM_207352.3:c.1187C>T NP_997235.3:p.Pro396Leu
XM_005262935.2:c.1187C>T XP_005262992.1:p.Pro396Leu
XM_006714184.2:c.791C>T XP_006714247.1:p.Pro264Leu
XM_005262935.4:c.1187C>T XP_005262992.1:p.Pro396Leu
XM_017008037.1:c.791C>T XP_016863526.1:p.Pro264Leu
NM_207352.4:c.1187C>T MANE Select NP_997235.3:p.Pro396Leu
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