Canonical Allele Identifier: CA358949437

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 1518532
• ClinVar RCV Id: RCV002021815
• dbSNP Id: rs1216129990
• MyVariant Identifiers: chr4:g.187126427A>C (hg19) ; chr4:g.186205273A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205273A>C , CM000666.2:g.186205273A>C	GRCh38
NC_000004.11:g.187126427A>C , CM000666.1:g.187126427A>C	GRCh37
NC_000004.10:g.187363421A>C	NCBI36
NG_007965.1:g.18754A>C
NG_012095.2:g.1295A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1061A>C MANE Select	ENSP00000368079.4:p.Lys354Thr
ENST00000378802.4:c.1061A>C	ENSP00000368079.4:p.Lys354Thr
ENST00000502665.1:n.296A>C
ENST00000507209.5:n.5759A>C
ENST00000513354.5:n.151A>C
NM_207352.3:c.1061A>C	NP_997235.3:p.Lys354Thr
XM_005262935.2:c.1061A>C	XP_005262992.1:p.Lys354Thr
XM_006714184.2:c.665A>C	XP_006714247.1:p.Lys222Thr
XM_005262935.4:c.1061A>C	XP_005262992.1:p.Lys354Thr
XM_017008037.1:c.665A>C	XP_016863526.1:p.Lys222Thr
NM_207352.4:c.1061A>C MANE Select	NP_997235.3:p.Lys354Thr