Canonical Allele Identifier: CA9269801
Gene: CYP4F22 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.15544007C>T
GRCh37 chr19:g.15654818C>T
gnomAD v2:
19:15654818 C / T
gnomAD v3:
19:15544007 C / T
gnomAD v4:
chr19-15544007-C-T
Joint Max Group AF 0.0000255 (AFR)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.00002374 (AFR)
ClinVar RCV:
RCV000484186
RCV000678422
ClinVar Variation:
420584
dbSNP:
762667660
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15544007C>T , CM000681.2:g.15544007C>T GRCh38
NC_000019.9:g.15654818C>T , CM000681.1:g.15654818C>T GRCh37
NC_000019.8:g.15515818C>T NCBI36
NG_007987.1:g.40483C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269703.8:c.976C>T MANE Select ENSP00000269703.1:p.Arg326Ter
ENST00000269703.7:c.976C>T ENSP00000269703.1:p.Arg326Ter
ENST00000601005.2:c.976C>T ENSP00000469866.1:p.Arg326Ter
NM_173483.3:c.976C>T NP_775754.2:p.Arg326Ter
XM_011527692.1:c.976C>T XP_011525994.1:p.Arg326Ter
XM_011527693.1:c.976C>T XP_011525995.1:p.Arg326Ter
XM_011527692.2:c.976C>T XP_011525994.1:p.Arg326Ter
XM_011527693.2:c.976C>T XP_011525995.1:p.Arg326Ter
NM_173483.4:c.976C>T MANE Select NP_775754.2:p.Arg326Ter
Search 100 bp 5'
Search 100 bp 3'