Canonical Allele Identifier: CA3162501
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs747109853
ExAC: 4:187115764 G / A
gnomAD v2: 4-187115764-G-A
gnomAD v3: 4-186194610-G-A
gnomAD v4: 4-186194610-G-A
MyVariant Identifiers: chr4:g.187115764G>A (hg19) chr4:g.186194610G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194610G>A , CM000666.2:g.186194610G>A GRCh38
NC_000004.11:g.187115764G>A , CM000666.1:g.187115764G>A GRCh37
NC_000004.10:g.187352758G>A NCBI36
NG_007965.1:g.8091G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.325G>A MANE Select ENSP00000368079.4:p.Glu109Lys
ENST00000378802.4:c.325G>A ENSP00000368079.4:p.Glu109Lys
NM_207352.3:c.325G>A NP_997235.3:p.Glu109Lys
XM_005262935.2:c.325G>A XP_005262992.1:p.Glu109Lys
XM_006714184.2:c.15G>A XP_006714247.1:p.Trp5Ter
XM_005262935.4:c.325G>A XP_005262992.1:p.Glu109Lys
XM_017008037.1:c.15G>A XP_016863526.1:p.Trp5Ter
NM_207352.4:c.325G>A MANE Select NP_997235.3:p.Glu109Lys
Search 100 bp 5'
Search 100 bp 3'