Canonical Allele Identifier: CA358947500
Gene: CYP4V2 HGNC NCBI

Linked Data

gnomAD v4: 4-186197056-T-A
MyVariant Identifiers: chr4:g.187118210T>A (hg19) chr4:g.186197056T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197056T>A , CM000666.2:g.186197056T>A GRCh38
NC_000004.11:g.187118210T>A , CM000666.1:g.187118210T>A GRCh37
NC_000004.10:g.187355204T>A NCBI36
NG_007965.1:g.10537T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.530T>A MANE Select ENSP00000368079.4:p.Leu177His
ENST00000378802.4:c.530T>A ENSP00000368079.4:p.Leu177His
ENST00000507209.5:n.969T>A
NM_207352.3:c.530T>A NP_997235.3:p.Leu177His
XM_005262935.2:c.530T>A XP_005262992.1:p.Leu177His
XM_006714184.2:c.134T>A XP_006714247.1:p.Leu45His
XM_005262935.4:c.530T>A XP_005262992.1:p.Leu177His
XM_017008037.1:c.134T>A XP_016863526.1:p.Leu45His
NM_207352.4:c.530T>A MANE Select NP_997235.3:p.Leu177His
Search 100 bp 5'
Search 100 bp 3'