Canonical Allele Identifier: CA3162558
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs370950185
ExAC: 4:187118103 C / A
gnomAD v2: 4-187118103-C-A
gnomAD v4: 4-186196949-C-A
MyVariant Identifiers: chr4:g.187118103C>A (hg19) chr4:g.187118103_187118107delinsAAAAT (hg19) chr4:g.186196949C>A (hg38) chr4:g.186196949_186196953delinsAAAAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186196949C>A , CM000666.2:g.186196949C>A GRCh38
NC_000004.11:g.187118103C>A , CM000666.1:g.187118103C>A GRCh37
NC_000004.10:g.187355097C>A NCBI36
NG_007965.1:g.10430C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.423C>A MANE Select ENSP00000368079.4:p.Asn141Lys
ENST00000378802.4:c.423C>A ENSP00000368079.4:p.Asn141Lys
ENST00000507209.5:n.862C>A
NM_207352.3:c.423C>A NP_997235.3:p.Asn141Lys
XM_005262935.2:c.423C>A XP_005262992.1:p.Asn141Lys
XM_006714184.2:c.27C>A XP_006714247.1:p.Asn9Lys
XM_005262935.4:c.423C>A XP_005262992.1:p.Asn141Lys
XM_017008037.1:c.27C>A XP_016863526.1:p.Asn9Lys
NM_207352.4:c.423C>A MANE Select NP_997235.3:p.Asn141Lys
Search 100 bp 5'
Search 100 bp 3'