Canonical Allele Identifier: CA2672896885

Gene: CYP4V2

Linked Data

• gnomAD v4: 4-186205233-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205234_186205235del , CM000666.2:g.186205234_186205235del	GRCh38
NC_000004.11:g.187126388_187126389del , CM000666.1:g.187126388_187126389del	GRCh37
NC_000004.10:g.187363382_187363383del	NCBI36
NG_007965.1:g.18715_18716del
NG_012095.2:g.1256_1257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1022_1023del MANE Select	ENSP00000368079.4:p.Ser341PhefsTer7
ENST00000378802.4:c.1022_1023del	ENSP00000368079.4:p.Ser341PhefsTer7
ENST00000502665.1:n.257_258del
ENST00000507209.5:n.5720_5721del
ENST00000513354.5:n.112_113del
NM_207352.3:c.1022_1023del	NP_997235.3:p.Ser341PhefsTer7
XM_005262935.2:c.1022_1023del	XP_005262992.1:p.Ser341PhefsTer7
XM_006714184.2:c.626_627del	XP_006714247.1:p.Ser209PhefsTer7
XM_005262935.4:c.1022_1023del	XP_005262992.1:p.Ser341PhefsTer7
XM_017008037.1:c.626_627del	XP_016863526.1:p.Ser209PhefsTer7
NM_207352.4:c.1022_1023del MANE Select	NP_997235.3:p.Ser341PhefsTer7