Canonical Allele Identifier: CA358947002
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs755855410
gnomAD v2: 4-187115751-T-G
gnomAD v3: 4-186194597-T-G
gnomAD v4: 4-186194597-T-G
MyVariant Identifiers: chr4:g.187115751T>G (hg19) chr4:g.186194597T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194597T>G , CM000666.2:g.186194597T>G GRCh38
NC_000004.11:g.187115751T>G , CM000666.1:g.187115751T>G GRCh37
NC_000004.10:g.187352745T>G NCBI36
NG_007965.1:g.8078T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.312T>G MANE Select ENSP00000368079.4:p.Asn104Lys
ENST00000378802.4:c.312T>G ENSP00000368079.4:p.Asn104Lys
NM_207352.3:c.312T>G NP_997235.3:p.Asn104Lys
XM_005262935.2:c.312T>G XP_005262992.1:p.Asn104Lys
XM_006714184.2:c.2T>G XP_006714247.1:p.Met1Arg
XM_005262935.4:c.312T>G XP_005262992.1:p.Asn104Lys
XM_017008037.1:c.2T>G XP_016863526.1:p.Met1Arg
NM_207352.4:c.312T>G MANE Select NP_997235.3:p.Asn104Lys
Search 100 bp 5'
Search 100 bp 3'