Canonical Allele Identifier: CA210942

Gene: CYP7B1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64596913C>T , CM000670.2:g.64596913C>T	GRCh38
NC_000008.10:g.65509470C>T , CM000670.1:g.65509470C>T	GRCh37
NC_000008.9:g.65672024C>T	NCBI36
NG_008338.1:g.206879G>A
NG_008338.2:g.206879G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004820.5:c.1250G>A MANE Select	NP_004811.1:p.Arg417His
ENST00000310193.4:c.1250G>A MANE Select	ENSP00000310721.3:p.Arg417His
NM_001324112.1:c.1234-7069G>A	NP_001311041.1:n.1234-7069G>A
NM_001324112.2:c.1234-7069G>A	NP_001311041.1:n.1234-7069G>A
NM_004820.3:c.1250G>A	NP_004811.1:p.Arg417His
NM_004820.4:c.1250G>A	NP_004811.1:p.Arg417His
ENST00000310193.3:c.1250G>A	ENSP00000310721.3:p.Arg417His
ENST00000523954.1:n.508-7069G>A
XM_017014002.1:c.1316G>A	XP_016869491.1:p.Arg439His