Canonical Allele Identifier: CA557054539

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1240262124
• gnomAD v2: 4-187126486-GTGGTACTAAGTCTGCTGCAGAGATGTCACTGTGTTGTAAACAC-G
• gnomAD v4: 4-186205332-GTGGTACTAAGTCTGCTGCAGAGATGTCACTGTGTTGTAAACAC-G
• MyVariant Identifiers: chr4:g.187126487_187126529del (hg19) ; chr4:g.186205333_186205375del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205333_186205375del , CM000666.2:g.186205333_186205375del	GRCh38
NC_000004.11:g.187126487_187126529del , CM000666.1:g.187126487_187126529del	GRCh37
NC_000004.10:g.187363481_187363523del	NCBI36
NG_007965.1:g.18814_18856del
NG_012095.2:g.1355_1397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1090+31_1090+73del MANE Select	ENSP00000368079.4:n.1090+31_1090+73del
ENST00000378802.4:c.1090+31_1090+73del	ENSP00000368079.4:n.1090+31_1090+73del
ENST00000502665.1:n.325+31_325+73del
ENST00000507209.5:n.5788+31_5788+73del
ENST00000513354.5:n.180+31_180+73del
NM_207352.3:c.1090+31_1090+73del	NP_997235.3:n.1090+31_1090+73del
XM_005262935.2:c.1090+31_1090+73del	XP_005262992.1:n.1090+31_1090+73del
XM_006714184.2:c.694+31_694+73del	XP_006714247.1:n.694+31_694+73del
XM_005262935.4:c.1090+31_1090+73del	XP_005262992.1:n.1090+31_1090+73del
XM_017008037.1:c.694+31_694+73del	XP_016863526.1:n.694+31_694+73del
NM_207352.4:c.1090+31_1090+73del MANE Select	NP_997235.3:n.1090+31_1090+73del