Canonical Allele Identifier: CA358948027
Gene: CYP4V2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.187120181A>C (hg19) chr4:g.186199027A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199027A>C , CM000666.2:g.186199027A>C GRCh38
NC_000004.11:g.187120181A>C , CM000666.1:g.187120181A>C GRCh37
NC_000004.10:g.187357175A>C NCBI36
NG_007965.1:g.12508A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.745A>C MANE Select ENSP00000368079.4:p.Lys249Gln
ENST00000378802.4:c.745A>C ENSP00000368079.4:p.Lys249Gln
ENST00000507209.5:n.1586A>C
NM_207352.3:c.745A>C NP_997235.3:p.Lys249Gln
XM_005262935.2:c.745A>C XP_005262992.1:p.Lys249Gln
XM_006714184.2:c.349A>C XP_006714247.1:p.Lys117Gln
XM_005262935.4:c.745A>C XP_005262992.1:p.Lys249Gln
XM_017008037.1:c.349A>C XP_016863526.1:p.Lys117Gln
NM_207352.4:c.745A>C MANE Select NP_997235.3:p.Lys249Gln
Search 100 bp 5'
Search 100 bp 3'