Canonical Allele Identifier: CA358946818
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs1736084684
gnomAD v3: 4-186194511-C-T
gnomAD v4: 4-186194511-C-T
MyVariant Identifiers: chr4:g.187115665C>T (hg19) chr4:g.186194511C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194511C>T , CM000666.2:g.186194511C>T GRCh38
NC_000004.11:g.187115665C>T , CM000666.1:g.187115665C>T GRCh37
NC_000004.10:g.187352659C>T NCBI36
NG_007965.1:g.7992C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.226C>T MANE Select ENSP00000368079.4:p.Gln76Ter
ENST00000378802.4:c.226C>T ENSP00000368079.4:p.Gln76Ter
NM_207352.3:c.226C>T NP_997235.3:p.Gln76Ter
XM_005262935.2:c.226C>T XP_005262992.1:p.Gln76Ter
XM_005262935.4:c.226C>T XP_005262992.1:p.Gln76Ter
XM_017008037.1:c.-85C>T XP_016863526.1:n.-85C>T
NM_207352.4:c.226C>T MANE Select NP_997235.3:p.Gln76Ter
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