Canonical Allele Identifier: CA112125844

Gene: CYP4V2

Linked Data

• dbSNP Id: rs991584281
• gnomAD v2: 4-187120008-C-T
• gnomAD v3: 4-186198854-C-T
• gnomAD v4: 4-186198854-C-T
• MyVariant Identifiers: chr4:g.187120008C>T (hg19) ; chr4:g.186198854C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186198854C>T , CM000666.2:g.186198854C>T	GRCh38
NC_000004.11:g.187120008C>T , CM000666.1:g.187120008C>T	GRCh37
NC_000004.10:g.187357002C>T	NCBI36
NG_007965.1:g.12335C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.675-103C>T MANE Select	ENSP00000368079.4:n.675-103C>T
ENST00000378802.4:c.675-103C>T	ENSP00000368079.4:n.675-103C>T
ENST00000507209.5:n.1516-103C>T
NM_207352.3:c.675-103C>T	NP_997235.3:n.675-103C>T
XM_005262935.2:c.675-103C>T	XP_005262992.1:n.675-103C>T
XM_006714184.2:c.279-103C>T	XP_006714247.1:n.279-103C>T
XM_005262935.4:c.675-103C>T	XP_005262992.1:n.675-103C>T
XM_017008037.1:c.279-103C>T	XP_016863526.1:n.279-103C>T
NM_207352.4:c.675-103C>T MANE Select	NP_997235.3:n.675-103C>T