Canonical Allele Identifier: CA112131484
Gene: CYP4V2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186205073T>C
GRCh37 chr4:g.187126227T>C
gnomAD v2:
4:187126227 T / C
gnomAD v3:
4:186205073 T / C
gnomAD v4:
chr4-186205073-T-C
Joint Max Group AF 0.00076403 (AFR)
Genomes Max Group AF 0.00064486 (AFR)
Exomes Max Group AF 0.00079085 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205073T>C , CM000666.2:g.186205073T>C GRCh38
NC_000004.11:g.187126227T>C , CM000666.1:g.187126227T>C GRCh37
NC_000004.10:g.187363221T>C NCBI36
NG_007965.1:g.18554T>C
NG_012095.2:g.1095T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.988-127T>C MANE Select ENSP00000368079.4:n.988-127T>C
ENST00000378802.4:c.988-127T>C ENSP00000368079.4:n.988-127T>C
ENST00000502665.1:n.222+15T>C
ENST00000507209.5:n.5559T>C
ENST00000513354.5:n.78-127T>C
NM_207352.3:c.988-127T>C NP_997235.3:n.988-127T>C
XM_005262935.2:c.988-127T>C XP_005262992.1:n.988-127T>C
XM_006714184.2:c.592-127T>C XP_006714247.1:n.592-127T>C
XM_005262935.4:c.988-127T>C XP_005262992.1:n.988-127T>C
XM_017008037.1:c.592-127T>C XP_016863526.1:n.592-127T>C
NM_207352.4:c.988-127T>C MANE Select NP_997235.3:n.988-127T>C
Search 100 bp 5'
Search 100 bp 3'