Canonical Allele Identifier: CA112134565

Gene: CYP4V2

Linked Data

• dbSNP Id: rs111424698
• gnomAD v2: 4-187129917-G-T
• gnomAD v3: 4-186208763-G-T
• gnomAD v4: 4-186208763-G-T
• MyVariant Identifiers: chr4:g.187129917G>T (hg19) ; chr4:g.186208763G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208763G>T , CM000666.2:g.186208763G>T	GRCh38
NC_000004.11:g.187129917G>T , CM000666.1:g.187129917G>T	GRCh37
NC_000004.10:g.187366911G>T	NCBI36
NG_007965.1:g.22244G>T
NG_012095.2:g.4785G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1091-102G>T MANE Select	ENSP00000368079.4:n.1091-102G>T
ENST00000378802.4:c.1091-102G>T	ENSP00000368079.4:n.1091-102G>T
ENST00000502665.1:n.326-102G>T
ENST00000507209.5:n.5789-102G>T
ENST00000513354.5:n.181-102G>T
NM_207352.3:c.1091-102G>T	NP_997235.3:n.1091-102G>T
XM_005262935.2:c.1091-102G>T	XP_005262992.1:n.1091-102G>T
XM_006714184.2:c.695-102G>T	XP_006714247.1:n.695-102G>T
XM_005262935.4:c.1091-102G>T	XP_005262992.1:n.1091-102G>T
XM_017008037.1:c.695-102G>T	XP_016863526.1:n.695-102G>T
NM_207352.4:c.1091-102G>T MANE Select	NP_997235.3:n.1091-102G>T