Canonical Allele Identifier: CA2687454801
Gene: CYP7B1 HGNC NCBI

Linked Data

gnomAD v4: 8-64624308-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624308A>C , CM000670.2:g.64624308A>C GRCh38
NC_000008.10:g.65536865A>C , CM000670.1:g.65536865A>C GRCh37
NC_000008.9:g.65699419A>C NCBI36
NG_008338.1:g.179484T>G
NG_008338.2:g.179484T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.259+95T>G MANE Select ENSP00000310721.3:n.259+95T>G
ENST00000310193.3:c.259+95T>G ENSP00000310721.3:n.259+95T>G
NM_004820.3:c.259+95T>G NP_004811.1:n.259+95T>G
NM_001324112.1:c.259+95T>G NP_001311041.1:n.259+95T>G
NM_004820.4:c.259+95T>G NP_004811.1:n.259+95T>G
XM_017014002.1:c.325+95T>G XP_016869491.1:n.325+95T>G
NM_004820.5:c.259+95T>G MANE Select NP_004811.1:n.259+95T>G
NM_001324112.2:c.259+95T>G NP_001311041.1:n.259+95T>G