Canonical Allele Identifier: CA3162556
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1044395
ClinVar RCV Id: RCV001348631
dbSNP Id: rs752979612
ExAC: 4:187118102 A / G
gnomAD v2: 4-187118102-A-G
gnomAD v3: 4-186196948-A-G
gnomAD v4: 4-186196948-A-G
MyVariant Identifiers: chr4:g.187118102A>G (hg19) chr4:g.186196948A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186196948A>G , CM000666.2:g.186196948A>G GRCh38
NC_000004.11:g.187118102A>G , CM000666.1:g.187118102A>G GRCh37
NC_000004.10:g.187355096A>G NCBI36
NG_007965.1:g.10429A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.422A>G MANE Select ENSP00000368079.4:p.Asn141Ser
ENST00000378802.4:c.422A>G ENSP00000368079.4:p.Asn141Ser
ENST00000507209.5:n.861A>G
NM_207352.3:c.422A>G NP_997235.3:p.Asn141Ser
XM_005262935.2:c.422A>G XP_005262992.1:p.Asn141Ser
XM_006714184.2:c.26A>G XP_006714247.1:p.Asn9Ser
XM_005262935.4:c.422A>G XP_005262992.1:p.Asn141Ser
XM_017008037.1:c.26A>G XP_016863526.1:p.Asn9Ser
NM_207352.4:c.422A>G MANE Select NP_997235.3:p.Asn141Ser
Search 100 bp 5'
Search 100 bp 3'