Canonical Allele Identifier: CA112121131
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs904780354
gnomAD v3: 4-186194754-G-A
gnomAD v4: 4-186194754-G-A
MyVariant Identifiers: chr4:g.187115908G>A (hg19) chr4:g.186194754G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194754G>A , CM000666.2:g.186194754G>A GRCh38
NC_000004.11:g.187115908G>A , CM000666.1:g.187115908G>A GRCh37
NC_000004.10:g.187352902G>A NCBI36
NG_007965.1:g.8235G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.327+142G>A MANE Select ENSP00000368079.4:n.327+142G>A
ENST00000378802.4:c.327+142G>A ENSP00000368079.4:n.327+142G>A
NM_207352.3:c.327+142G>A NP_997235.3:n.327+142G>A
XM_005262935.2:c.327+142G>A XP_005262992.1:n.327+142G>A
XM_006714184.2:c.17+142G>A XP_006714247.1:n.17+142G>A
XM_005262935.4:c.327+142G>A XP_005262992.1:n.327+142G>A
XM_017008037.1:c.17+142G>A XP_016863526.1:n.17+142G>A
NM_207352.4:c.327+142G>A MANE Select NP_997235.3:n.327+142G>A
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