Canonical Allele Identifier: CA21980668
Gene: CYP4B1 HGNC NCBI
ClinVar RCV:
RCV002508849
ClinVar Variation:
1693613
COSMIC:
COSN6458160
dbSNP:
12059860
gnomAD v2:
1:47284923 T / C
gnomAD v3:
1:46819251 T / C
gnomAD v4:
chr1-46819251-T-C
Joint Max Group AF 0.09669501 (AFR)
Genomes Max Group AF 0.0966203 (AFR)
Exomes Max Group AF 0.07654112 (AFR)
MyVariant.info:
GRCh38 chr1:g.46819251T>C
GRCh37 chr1:g.47284923T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46819251T>C , CM000663.2:g.46819251T>C GRCh38
NC_000001.10:g.47284923T>C , CM000663.1:g.47284923T>C GRCh37
NC_000001.9:g.47057510T>C NCBI36
NG_007939.1:g.25254T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371923.9:c.*437T>C MANE Select ENSP00000360991.4:n.*437T>C
ENST00000271153.8:c.*437T>C ENSP00000271153.4:n.*437T>C
ENST00000371923.8:c.*437T>C ENSP00000360991.4:n.*437T>C
ENST00000464439.6:c.*925T>C ENSP00000433068.1:n.*925T>C
NM_000779.3:c.*437T>C NP_000770.2:n.*437T>C
NM_001099772.1:c.*437T>C NP_001093242.1:n.*437T>C
XM_011540831.1:c.*437T>C XP_011539133.1:n.*437T>C
XM_011540833.1:c.*437T>C XP_011539135.1:n.*437T>C
XM_011540834.1:c.*437T>C XP_011539136.1:n.*437T>C
NM_001319161.1:c.*437T>C NP_001306090.1:n.*437T>C
NM_001319162.1:c.*437T>C NP_001306091.1:n.*437T>C
NM_001319163.1:c.*437T>C NP_001306092.1:n.*437T>C
NR_135003.1:n.1987T>C
XM_017000466.1:c.*437T>C XP_016855955.1:n.*437T>C
NM_000779.4:c.*437T>C NP_000770.2:n.*437T>C
NM_001099772.2:c.*437T>C MANE Select NP_001093242.1:n.*437T>C
NM_001319161.2:c.*437T>C NP_001306090.1:n.*437T>C
NM_001319162.2:c.*437T>C NP_001306091.1:n.*437T>C
NM_001319163.2:c.*437T>C NP_001306092.1:n.*437T>C
NR_135003.2:n.1939T>C
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