Canonical Allele Identifier: CA1519919358
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs1736188488
gnomAD v4: 4-186197562-CAAAGT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197565_186197569del , CM000666.2:g.186197565_186197569del GRCh38
NC_000004.11:g.187118719_187118723del , CM000666.1:g.187118719_187118723del GRCh37
NC_000004.10:g.187355713_187355717del NCBI36
NG_007965.1:g.11046_11050del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.637_641del MANE Select ENSP00000368079.4:p.Ser213Ter
ENST00000378802.4:c.637_641del ENSP00000368079.4:p.Ser213Ter
ENST00000507209.5:n.1478_1482del
NM_207352.3:c.637_641del NP_997235.3:p.Ser213Ter
XM_005262935.2:c.637_641del XP_005262992.1:p.Ser213Ter
XM_006714184.2:c.241_245del XP_006714247.1:p.Ser81Ter
XM_005262935.4:c.637_641del XP_005262992.1:p.Ser213Ter
XM_017008037.1:c.241_245del XP_016863526.1:p.Ser81Ter
NM_207352.4:c.637_641del MANE Select NP_997235.3:p.Ser213Ter
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