Canonical Allele Identifier: CA3162499
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs758628871
ExAC: 4:187115756 A / C
gnomAD v2: 4-187115756-A-C
gnomAD v3: 4-186194602-A-C
gnomAD v4: 4-186194602-A-C
MyVariant Identifiers: chr4:g.187115756A>C (hg19) chr4:g.186194602A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194602A>C , CM000666.2:g.186194602A>C GRCh38
NC_000004.11:g.187115756A>C , CM000666.1:g.187115756A>C GRCh37
NC_000004.10:g.187352750A>C NCBI36
NG_007965.1:g.8083A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.317A>C MANE Select ENSP00000368079.4:p.Glu106Ala
ENST00000378802.4:c.317A>C ENSP00000368079.4:p.Glu106Ala
NM_207352.3:c.317A>C NP_997235.3:p.Glu106Ala
XM_005262935.2:c.317A>C XP_005262992.1:p.Glu106Ala
XM_006714184.2:c.7A>C XP_006714247.1:p.Lys3Gln
XM_005262935.4:c.317A>C XP_005262992.1:p.Glu106Ala
XM_017008037.1:c.7A>C XP_016863526.1:p.Lys3Gln
NM_207352.4:c.317A>C MANE Select NP_997235.3:p.Glu106Ala
Search 100 bp 5'
Search 100 bp 3'