Canonical Allele Identifier: CA3162559

Gene: CYP4V2

Linked Data

• dbSNP Id: rs753990809
• ExAC: 4:187118105 A / T
• gnomAD v2: 4-187118105-A-T
• gnomAD v4: 4-186196951-A-T
• MyVariant Identifiers: chr4:g.187118105A>T (hg19) ; chr4:g.186196951A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186196951A>T , CM000666.2:g.186196951A>T	GRCh38
NC_000004.11:g.187118105A>T , CM000666.1:g.187118105A>T	GRCh37
NC_000004.10:g.187355099A>T	NCBI36
NG_007965.1:g.10432A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.425A>T MANE Select	ENSP00000368079.4:p.Lys142Ile
ENST00000378802.4:c.425A>T	ENSP00000368079.4:p.Lys142Ile
ENST00000507209.5:n.864A>T
NM_207352.3:c.425A>T	NP_997235.3:p.Lys142Ile
XM_005262935.2:c.425A>T	XP_005262992.1:p.Lys142Ile
XM_006714184.2:c.29A>T	XP_006714247.1:p.Lys10Ile
XM_005262935.4:c.425A>T	XP_005262992.1:p.Lys142Ile
XM_017008037.1:c.29A>T	XP_016863526.1:p.Lys10Ile
NM_207352.4:c.425A>T MANE Select	NP_997235.3:p.Lys142Ile