Canonical Allele Identifier: CA3162635

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 942415
• ClinVar RCV Id: RCV001212400
• dbSNP Id: rs563685672
• ExAC: 4:187120122 T / C
• gnomAD v2: 4-187120122-T-C
• gnomAD v3: 4-186198968-T-C
• gnomAD v4: 4-186198968-T-C
• MyVariant Identifiers: chr4:g.187120122T>C (hg19) ; chr4:g.186198968T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186198968T>C , CM000666.2:g.186198968T>C	GRCh38
NC_000004.11:g.187120122T>C , CM000666.1:g.187120122T>C	GRCh37
NC_000004.10:g.187357116T>C	NCBI36
NG_007965.1:g.12449T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.686T>C MANE Select	ENSP00000368079.4:p.Met229Thr
ENST00000378802.4:c.686T>C	ENSP00000368079.4:p.Met229Thr
ENST00000507209.5:n.1527T>C
NM_207352.3:c.686T>C	NP_997235.3:p.Met229Thr
XM_005262935.2:c.686T>C	XP_005262992.1:p.Met229Thr
XM_006714184.2:c.290T>C	XP_006714247.1:p.Met97Thr
XM_005262935.4:c.686T>C	XP_005262992.1:p.Met229Thr
XM_017008037.1:c.290T>C	XP_016863526.1:p.Met97Thr
NM_207352.4:c.686T>C MANE Select	NP_997235.3:p.Met229Thr