Canonical Allele Identifier: CA3162398

Gene: CYP4V2

Linked Data

• dbSNP Id: rs780761106
• ExAC: 4:187112946 C / T
• gnomAD v2: 4-187112946-C-T
• gnomAD v3: 4-186191792-C-T
• gnomAD v4: 4-186191792-C-T
• MyVariant Identifiers: chr4:g.187112946C>T (hg19) ; chr4:g.187112946_187112947delinsTG (hg19) ; chr4:g.187112946_187112968delinsTGGAGTGCACCCCGCGGCCGCCA (hg19) ; chr4:g.186191792C>T (hg38) ; chr4:g.186191792_186191814delinsTGGAGTGCACCCCGCGGCCGCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186191792C>T , CM000666.2:g.186191792C>T	GRCh38
NC_000004.11:g.187112946C>T , CM000666.1:g.187112946C>T	GRCh37
NC_000004.10:g.187349940C>T	NCBI36
NG_007965.1:g.5273C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.-32C>T MANE Select	ENSP00000368079.4:n.-32C>T
ENST00000378802.4:c.-32C>T	ENSP00000368079.4:n.-32C>T
NM_207352.3:c.-32C>T	NP_997235.3:n.-32C>T
XM_005262935.2:c.-32C>T	XP_005262992.1:n.-32C>T
XM_005262935.4:c.-32C>T	XP_005262992.1:n.-32C>T
XM_017008037.1:c.-342C>T	XP_016863526.1:n.-342C>T
NM_207352.4:c.-32C>T MANE Select	NP_997235.3:n.-32C>T