Canonical Allele Identifier: CA4764191
Gene: CYP7B1 HGNC NCBI
COSMIC:
COSM4806769 (not active)
MyVariant.info:
GRCh38 chr8:g.64616011G>A
GRCh37 chr8:g.65528568G>A
Revel Score:
ENST00000310193 (MANE Select) 0.273
gnomAD v2:
8:65528568 G / A
gnomAD v3:
8:64616011 G / A
gnomAD v4:
chr8-64616011-G-A
Joint Max Group AF 0.00527197 (MID)
Genomes Max Group AF 0.00203325 (AMR)
Exomes Max Group AF 0.00554092 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64616011G>A , CM000670.2:g.64616011G>A GRCh38
NC_000008.10:g.65528568G>A , CM000670.1:g.65528568G>A GRCh37
NC_000008.9:g.65691122G>A NCBI36
NG_008338.1:g.187781C>T
NG_008338.2:g.187781C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.530C>T MANE Select ENSP00000310721.3:p.Thr177Met
ENST00000310193.3:c.530C>T ENSP00000310721.3:p.Thr177Met
NM_004820.3:c.530C>T NP_004811.1:p.Thr177Met
NM_001324112.1:c.530C>T NP_001311041.1:p.Thr177Met
NM_004820.4:c.530C>T NP_004811.1:p.Thr177Met
XM_017014002.1:c.596C>T XP_016869491.1:p.Thr199Met
NM_004820.5:c.530C>T MANE Select NP_004811.1:p.Thr177Met
NM_001324112.2:c.530C>T NP_001311041.1:p.Thr177Met
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