Canonical Allele Identifier: CA112131643

Gene: CYP4V2

Linked Data

• dbSNP Id: rs191481105
• gnomAD v3: 4-186205235-C-T
• gnomAD v4: 4-186205235-C-T
• MyVariant Identifiers: chr4:g.187126389C>T (hg19) ; chr4:g.186205235C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205235C>T , CM000666.2:g.186205235C>T	GRCh38
NC_000004.11:g.187126389C>T , CM000666.1:g.187126389C>T	GRCh37
NC_000004.10:g.187363383C>T	NCBI36
NG_007965.1:g.18716C>T
NG_012095.2:g.1257C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1023C>T MANE Select	ENSP00000368079.4:p.Ser341=
ENST00000378802.4:c.1023C>T	ENSP00000368079.4:p.Ser341=
ENST00000502665.1:n.258C>T
ENST00000507209.5:n.5721C>T
ENST00000513354.5:n.113C>T
NM_207352.3:c.1023C>T	NP_997235.3:p.Ser341=
XM_005262935.2:c.1023C>T	XP_005262992.1:p.Ser341=
XM_006714184.2:c.627C>T	XP_006714247.1:p.Ser209=
XM_005262935.4:c.1023C>T	XP_005262992.1:p.Ser341=
XM_017008037.1:c.627C>T	XP_016863526.1:p.Ser209=
NM_207352.4:c.1023C>T MANE Select	NP_997235.3:p.Ser341=