Canonical Allele Identifier: CA3162746

Gene: CYP4V2

Linked Data

• dbSNP Id: rs780703259
• ExAC: 4:187129973 GC / G
• gnomAD v2: 4-187129973-GC-G
• gnomAD v3: 4-186208819-GC-G
• gnomAD v4: 4-186208819-GC-G
• MyVariant Identifiers: chr4:g.187129974del (hg19) ; chr4:g.186208820del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208824del , CM000666.2:g.186208824del	GRCh38
NC_000004.11:g.187129978del , CM000666.1:g.187129978del	GRCh37
NC_000004.10:g.187366972del	NCBI36
NG_007965.1:g.22305del
NG_012095.2:g.4846del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1091-41del MANE Select	ENSP00000368079.4:n.1091-41del
ENST00000378802.4:c.1091-41del	ENSP00000368079.4:n.1091-41del
ENST00000502665.1:n.326-41del
ENST00000507209.5:n.5789-41del
ENST00000513354.5:n.181-41del
NM_207352.3:c.1091-41del	NP_997235.3:n.1091-41del
XM_005262935.2:c.1091-41del	XP_005262992.1:n.1091-41del
XM_006714184.2:c.695-41del	XP_006714247.1:n.695-41del
XM_005262935.4:c.1091-41del	XP_005262992.1:n.1091-41del
XM_017008037.1:c.695-41del	XP_016863526.1:n.695-41del
NM_207352.4:c.1091-41del MANE Select	NP_997235.3:n.1091-41del