Canonical Allele Identifier: CA854273109
Gene: CYP7B1 HGNC NCBI

Linked Data

dbSNP Id: rs1177523632
gnomAD v3: 8-64624595-T-G
gnomAD v4: 8-64624595-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624595T>G , CM000670.2:g.64624595T>G GRCh38
NC_000008.10:g.65537152T>G , CM000670.1:g.65537152T>G GRCh37
NC_000008.9:g.65699706T>G NCBI36
NG_008338.1:g.179197A>C
NG_008338.2:g.179197A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.123-56A>C MANE Select ENSP00000310721.3:n.123-56A>C
ENST00000310193.3:c.123-56A>C ENSP00000310721.3:n.123-56A>C
NM_004820.3:c.123-56A>C NP_004811.1:n.123-56A>C
NM_001324112.1:c.123-56A>C NP_001311041.1:n.123-56A>C
NM_004820.4:c.123-56A>C NP_004811.1:n.123-56A>C
XM_017014002.1:c.189-56A>C XP_016869491.1:n.189-56A>C
NM_004820.5:c.123-56A>C MANE Select NP_004811.1:n.123-56A>C
NM_001324112.2:c.123-56A>C NP_001311041.1:n.123-56A>C