Canonical Allele Identifier: CA358946550
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1039696
ClinVar RCV Id: RCV001343218
dbSNP Id: rs1735996924
MyVariant Identifiers: chr4:g.187113078T>C (hg19) chr4:g.186191924T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186191924T>C , CM000666.2:g.186191924T>C GRCh38
NC_000004.11:g.187113078T>C , CM000666.1:g.187113078T>C GRCh37
NC_000004.10:g.187350072T>C NCBI36
NG_007965.1:g.5405T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.101T>C MANE Select ENSP00000368079.4:p.Leu34Pro
ENST00000378802.4:c.101T>C ENSP00000368079.4:p.Leu34Pro
NM_207352.3:c.101T>C NP_997235.3:p.Leu34Pro
XM_005262935.2:c.101T>C XP_005262992.1:p.Leu34Pro
XM_005262935.4:c.101T>C XP_005262992.1:p.Leu34Pro
XM_017008037.1:c.-210T>C XP_016863526.1:n.-210T>C
NM_207352.4:c.101T>C MANE Select NP_997235.3:p.Leu34Pro
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