Canonical Allele Identifier: CA854284094
Gene: CYP7B1 HGNC NCBI

Linked Data

dbSNP Id: rs1418021156
gnomAD v3: 8-64727647-A-T
gnomAD v4: 8-64727647-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64727647A>T , CM000670.2:g.64727647A>T GRCh38
NC_000008.10:g.65640204A>T , CM000670.1:g.65640204A>T GRCh37
NC_000008.9:g.65802758A>T NCBI36
NG_008338.1:g.76145T>A
NG_008338.2:g.76145T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.122+70819T>A MANE Select ENSP00000310721.3:n.122+70819T>A
ENST00000310193.3:c.122+70819T>A ENSP00000310721.3:n.122+70819T>A
NM_004820.3:c.122+70819T>A NP_004811.1:n.122+70819T>A
NM_001324112.1:c.122+70819T>A NP_001311041.1:n.122+70819T>A
NM_004820.4:c.122+70819T>A NP_004811.1:n.122+70819T>A
NM_004820.5:c.122+70819T>A MANE Select NP_004811.1:n.122+70819T>A
NM_001324112.2:c.122+70819T>A NP_001311041.1:n.122+70819T>A