Canonical Allele Identifier: CA442882062
Gene: CYP4V2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.187130101T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208947T>C , CM000666.2:g.186208947T>C GRCh38
NC_000004.11:g.187130101T>C , CM000666.1:g.187130101T>C GRCh37
NC_000004.10:g.187367095T>C NCBI36
NG_007965.1:g.22428T>C
NG_012095.2:g.4969T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1173T>C MANE Select ENSP00000368079.4:p.Leu391=
ENST00000378802.4:c.1173T>C ENSP00000368079.4:p.Leu391=
ENST00000502665.1:n.408T>C
ENST00000507209.5:n.5871T>C
ENST00000513354.5:n.263T>C
NM_207352.3:c.1173T>C NP_997235.3:p.Leu391=
XM_005262935.2:c.1173T>C XP_005262992.1:p.Leu391=
XM_006714184.2:c.777T>C XP_006714247.1:p.Leu259=
XM_005262935.4:c.1173T>C XP_005262992.1:p.Leu391=
XM_017008037.1:c.777T>C XP_016863526.1:p.Leu259=
NM_207352.4:c.1173T>C MANE Select NP_997235.3:p.Leu391=