Canonical Allele Identifier: CA3162470

Gene: CYP4V2

Linked Data

• dbSNP Id: rs767122178
• ExAC: 4:187115624 T / C
• gnomAD v2: 4-187115624-T-C
• gnomAD v3: 4-186194470-T-C
• gnomAD v4: 4-186194470-T-C
• MyVariant Identifiers: chr4:g.187115624T>C (hg19) ; chr4:g.186194470T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186194470T>C , CM000666.2:g.186194470T>C	GRCh38
NC_000004.11:g.187115624T>C , CM000666.1:g.187115624T>C	GRCh37
NC_000004.10:g.187352618T>C	NCBI36
NG_007965.1:g.7951T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.215-30T>C MANE Select	ENSP00000368079.4:n.215-30T>C
ENST00000378802.4:c.215-30T>C	ENSP00000368079.4:n.215-30T>C
NM_207352.3:c.215-30T>C	NP_997235.3:n.215-30T>C
XM_005262935.2:c.215-30T>C	XP_005262992.1:n.215-30T>C
XM_005262935.4:c.215-30T>C	XP_005262992.1:n.215-30T>C
XM_017008037.1:c.-96-30T>C	XP_016863526.1:n.-96-30T>C
NM_207352.4:c.215-30T>C MANE Select	NP_997235.3:n.215-30T>C