Canonical Allele Identifier: CA112131130

Gene: CYP4V2

Linked Data

• dbSNP Id: rs992687935
• gnomAD v2: 4-187125823-T-A
• gnomAD v3: 4-186204669-T-A
• gnomAD v4: 4-186204669-T-A
• MyVariant Identifiers: chr4:g.187125823T>A (hg19) ; chr4:g.186204669T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186204669T>A , CM000666.2:g.186204669T>A	GRCh38
NC_000004.11:g.187125823T>A , CM000666.1:g.187125823T>A	GRCh37
NC_000004.10:g.187362817T>A	NCBI36
NG_007965.1:g.18150T>A
NG_012095.2:g.691T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.988-531T>A MANE Select	ENSP00000368079.4:n.988-531T>A
ENST00000378802.4:c.988-531T>A	ENSP00000368079.4:n.988-531T>A
ENST00000507209.5:n.5155T>A
ENST00000513354.5:n.77+212T>A
NM_207352.3:c.988-531T>A	NP_997235.3:n.988-531T>A
XM_005262935.2:c.988-531T>A	XP_005262992.1:n.988-531T>A
XM_006714184.2:c.592-531T>A	XP_006714247.1:n.592-531T>A
XM_005262935.4:c.988-531T>A	XP_005262992.1:n.988-531T>A
XM_017008037.1:c.592-531T>A	XP_016863526.1:n.592-531T>A
NM_207352.4:c.988-531T>A MANE Select	NP_997235.3:n.988-531T>A