Canonical Allele Identifier: CA112124692

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1020701260
• gnomAD v3: 4-186197242-T-TAGCC
• gnomAD v4: 4-186197242-T-TAGCC
• MyVariant Identifiers: chr4:g.187118396_187118397insAGCC (hg19) ; chr4:g.186197242_186197243insAGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186197242_186197243insAGCC , CM000666.2:g.186197242_186197243insAGCC	GRCh38
NC_000004.11:g.187118396_187118397insAGCC , CM000666.1:g.187118396_187118397insAGCC	GRCh37
NC_000004.10:g.187355390_187355391insAGCC	NCBI36
NG_007965.1:g.10723_10724insAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.604+112_604+113insAGCC MANE Select	ENSP00000368079.4:n.604+112_604+113insAGCC
ENST00000378802.4:c.604+112_604+113insAGCC	ENSP00000368079.4:n.604+112_604+113insAGCC
ENST00000507209.5:n.1155_1156insAGCC
NM_207352.3:c.604+112_604+113insAGCC	NP_997235.3:n.604+112_604+113insAGCC
XM_005262935.2:c.604+112_604+113insAGCC	XP_005262992.1:n.604+112_604+113insAGCC
XM_006714184.2:c.208+112_208+113insAGCC	XP_006714247.1:n.208+112_208+113insAGCC
XM_005262935.4:c.604+112_604+113insAGCC	XP_005262992.1:n.604+112_604+113insAGCC
XM_017008037.1:c.208+112_208+113insAGCC	XP_016863526.1:n.208+112_208+113insAGCC
NM_207352.4:c.604+112_604+113insAGCC MANE Select	NP_997235.3:n.604+112_604+113insAGCC