Canonical Allele Identifier: CA112120822
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs959342530
gnomAD v2: 4-187115473-T-C
gnomAD v3: 4-186194319-T-C
gnomAD v4: 4-186194319-T-C
MyVariant Identifiers: chr4:g.187115473T>C (hg19) chr4:g.186194319T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194319T>C , CM000666.2:g.186194319T>C GRCh38
NC_000004.11:g.187115473T>C , CM000666.1:g.187115473T>C GRCh37
NC_000004.10:g.187352467T>C NCBI36
NG_007965.1:g.7800T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.215-181T>C MANE Select ENSP00000368079.4:n.215-181T>C
ENST00000378802.4:c.215-181T>C ENSP00000368079.4:n.215-181T>C
NM_207352.3:c.215-181T>C NP_997235.3:n.215-181T>C
XM_005262935.2:c.215-181T>C XP_005262992.1:n.215-181T>C
XM_005262935.4:c.215-181T>C XP_005262992.1:n.215-181T>C
XM_017008037.1:c.-96-181T>C XP_016863526.1:n.-96-181T>C
NM_207352.4:c.215-181T>C MANE Select NP_997235.3:n.215-181T>C
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