Canonical Allele Identifier: CA10620647

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 348290
• ClinVar RCV Id: RCV000299291 ; RCV000394417
• dbSNP Id: rs886059279
• gnomAD v2: 4-187112800-C-T
• gnomAD v3: 4-186191646-C-T
• gnomAD v4: 4-186191646-C-T
• MyVariant Identifiers: chr4:g.187112800C>T (hg19) ; chr4:g.186191646C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186191646C>T , CM000666.2:g.186191646C>T	GRCh38
NC_000004.11:g.187112800C>T , CM000666.1:g.187112800C>T	GRCh37
NC_000004.10:g.187349794C>T	NCBI36
NG_007965.1:g.5127C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.-178C>T MANE Select	ENSP00000368079.4:n.-178C>T
ENST00000378802.4:c.-178C>T	ENSP00000368079.4:n.-178C>T
NM_207352.3:c.-178C>T	NP_997235.3:n.-178C>T
XM_005262935.2:c.-178C>T	XP_005262992.1:n.-178C>T
NM_207352.4:c.-178C>T MANE Select	NP_997235.3:n.-178C>T