Canonical Allele Identifier: CA1071986538

Gene: CYP4V2

Linked Data

• dbSNP Id: rs974704366
• gnomAD v3: 4-186197709-C-T
• gnomAD v4: 4-186197709-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186197709C>T , CM000666.2:g.186197709C>T	GRCh38
NC_000004.11:g.187118863C>T , CM000666.1:g.187118863C>T	GRCh37
NC_000004.10:g.187355857C>T	NCBI36
NG_007965.1:g.11190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.674+107C>T MANE Select	ENSP00000368079.4:n.674+107C>T
ENST00000378802.4:c.674+107C>T	ENSP00000368079.4:n.674+107C>T
ENST00000507209.5:n.1515+107C>T
NM_207352.3:c.674+107C>T	NP_997235.3:n.674+107C>T
XM_005262935.2:c.674+107C>T	XP_005262992.1:n.674+107C>T
XM_006714184.2:c.278+107C>T	XP_006714247.1:n.278+107C>T
XM_005262935.4:c.674+107C>T	XP_005262992.1:n.674+107C>T
XM_017008037.1:c.278+107C>T	XP_016863526.1:n.278+107C>T
NM_207352.4:c.674+107C>T MANE Select	NP_997235.3:n.674+107C>T