Canonical Allele Identifier: CA1114697635
Gene: CYP7B1 HGNC NCBI

Linked Data

dbSNP Id: rs1807342383
gnomAD v3: 8-64727583-G-A
gnomAD v4: 8-64727583-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64727583G>A , CM000670.2:g.64727583G>A GRCh38
NC_000008.10:g.65640140G>A , CM000670.1:g.65640140G>A GRCh37
NC_000008.9:g.65802694G>A NCBI36
NG_008338.1:g.76209C>T
NG_008338.2:g.76209C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000310193.4:c.122+70883C>T MANE Select ENSP00000310721.3:n.122+70883C>T
ENST00000310193.3:c.122+70883C>T ENSP00000310721.3:n.122+70883C>T
NM_004820.3:c.122+70883C>T NP_004811.1:n.122+70883C>T
NM_001324112.1:c.122+70883C>T NP_001311041.1:n.122+70883C>T
NM_004820.4:c.122+70883C>T NP_004811.1:n.122+70883C>T
NM_004820.5:c.122+70883C>T MANE Select NP_004811.1:n.122+70883C>T
NM_001324112.2:c.122+70883C>T NP_001311041.1:n.122+70883C>T