Canonical Allele Identifier: CA112131919

Gene: CYP4V2

Linked Data

• dbSNP Id: rs751222508
• gnomAD v2: 4-187126594-C-T
• gnomAD v3: 4-186205440-C-T
• gnomAD v4: 4-186205440-C-T
• MyVariant Identifiers: chr4:g.187126594C>T (hg19) ; chr4:g.186205440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205440C>T , CM000666.2:g.186205440C>T	GRCh38
NC_000004.11:g.187126594C>T , CM000666.1:g.187126594C>T	GRCh37
NC_000004.10:g.187363588C>T	NCBI36
NG_007965.1:g.18921C>T
NG_012095.2:g.1462C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1090+138C>T MANE Select	ENSP00000368079.4:n.1090+138C>T
ENST00000378802.4:c.1090+138C>T	ENSP00000368079.4:n.1090+138C>T
ENST00000502665.1:n.325+138C>T
ENST00000507209.5:n.5788+138C>T
ENST00000513354.5:n.180+138C>T
NM_207352.3:c.1090+138C>T	NP_997235.3:n.1090+138C>T
XM_005262935.2:c.1090+138C>T	XP_005262992.1:n.1090+138C>T
XM_006714184.2:c.694+138C>T	XP_006714247.1:n.694+138C>T
XM_005262935.4:c.1090+138C>T	XP_005262992.1:n.1090+138C>T
XM_017008037.1:c.694+138C>T	XP_016863526.1:n.694+138C>T
NM_207352.4:c.1090+138C>T MANE Select	NP_997235.3:n.1090+138C>T