Canonical Allele Identifier: CA4764264

Gene: CYP7B1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624401A>G , CM000670.2:g.64624401A>G	GRCh38
NC_000008.10:g.65536958A>G , CM000670.1:g.65536958A>G	GRCh37
NC_000008.9:g.65699512A>G	NCBI36
NG_008338.1:g.179391T>C
NG_008338.2:g.179391T>C

Transcript Alleles

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