Canonical Allele Identifier: CA112124721

Gene: CYP4V2

Linked Data

• dbSNP Id: rs769104744
• gnomAD v3: 4-186197271-CCTT-C
• gnomAD v4: 4-186197271-CCTT-C
• MyVariant Identifiers: chr4:g.187118426_187118428del (hg19) ; chr4:g.186197272_186197274del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186197274_186197276del , CM000666.2:g.186197274_186197276del	GRCh38
NC_000004.11:g.187118428_187118430del , CM000666.1:g.187118428_187118430del	GRCh37
NC_000004.10:g.187355422_187355424del	NCBI36
NG_007965.1:g.10755_10757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.604+144_604+146del MANE Select	ENSP00000368079.4:n.604+144_604+146del
ENST00000378802.4:c.604+144_604+146del	ENSP00000368079.4:n.604+144_604+146del
ENST00000507209.5:n.1187_1189del
NM_207352.3:c.604+144_604+146del	NP_997235.3:n.604+144_604+146del
XM_005262935.2:c.604+144_604+146del	XP_005262992.1:n.604+144_604+146del
XM_006714184.2:c.208+144_208+146del	XP_006714247.1:n.208+144_208+146del
XM_005262935.4:c.604+144_604+146del	XP_005262992.1:n.604+144_604+146del
XM_017008037.1:c.208+144_208+146del	XP_016863526.1:n.208+144_208+146del
NM_207352.4:c.604+144_604+146del MANE Select	NP_997235.3:n.604+144_604+146del