Canonical Allele Identifier: CA792325068

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1489250909
• gnomAD v3: 4-186204652-A-AT
• gnomAD v4: 4-186204652-A-AT
• MyVariant Identifiers: chr4:g.187125806_187125807insT (hg19) ; chr4:g.186204652_186204653insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186204653dup , CM000666.2:g.186204653dup	GRCh38
NC_000004.11:g.187125807dup , CM000666.1:g.187125807dup	GRCh37
NC_000004.10:g.187362801dup	NCBI36
NG_007965.1:g.18134dup
NG_012095.2:g.675dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.988-547dup MANE Select	ENSP00000368079.4:n.988-547dup
ENST00000378802.4:c.988-547dup	ENSP00000368079.4:n.988-547dup
ENST00000507209.5:n.5139dup
ENST00000513354.5:n.77+196dup
NM_207352.3:c.988-547dup	NP_997235.3:n.988-547dup
XM_005262935.2:c.988-547dup	XP_005262992.1:n.988-547dup
XM_006714184.2:c.592-547dup	XP_006714247.1:n.592-547dup
XM_005262935.4:c.988-547dup	XP_005262992.1:n.988-547dup
XM_017008037.1:c.592-547dup	XP_016863526.1:n.592-547dup
NM_207352.4:c.988-547dup MANE Select	NP_997235.3:n.988-547dup