Canonical Allele Identifier: CA339958

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 2191
• ClinVar RCV Id: RCV000002275 ; RCV001851576 ; RCV003887849
• dbSNP Id: rs199476183
• ExAC: 4:187130017 A / G
• gnomAD v2: 4-187130017-A-G
• gnomAD v4: 4-186208863-A-G
• MyVariant Identifiers: chr4:g.187130017A>G (hg19) ; chr4:g.186208863A>G (hg38)
• PubMed: PMID:15042513 ; PMID:15937078 ; PMID:21565171 ; PMID:22497028 ; PMID:22693542 ; PMID:23661369 ; PMID:25593508

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208863A>G , CM000666.2:g.186208863A>G	GRCh38
NC_000004.11:g.187130017A>G , CM000666.1:g.187130017A>G	GRCh37
NC_000004.10:g.187367011A>G	NCBI36
NG_007965.1:g.22344A>G
NG_012095.2:g.4885A>G

Transcript Alleles

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