Canonical Allele Identifier: CA371335806

Gene: CYP7B1

Linked Data

• MyVariant Identifiers: chr8:g.65528683G>A (hg19) ; chr8:g.64616126G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64616126G>A , CM000670.2:g.64616126G>A	GRCh38
NC_000008.10:g.65528683G>A , CM000670.1:g.65528683G>A	GRCh37
NC_000008.9:g.65691237G>A	NCBI36
NG_008338.1:g.187666C>T
NG_008338.2:g.187666C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.415C>T MANE Select	ENSP00000310721.3:p.His139Tyr
ENST00000310193.3:c.415C>T	ENSP00000310721.3:p.His139Tyr
NM_004820.3:c.415C>T	NP_004811.1:p.His139Tyr
NM_001324112.1:c.415C>T	NP_001311041.1:p.His139Tyr
NM_004820.4:c.415C>T	NP_004811.1:p.His139Tyr
XM_017014002.1:c.481C>T	XP_016869491.1:p.His161Tyr
NM_004820.5:c.415C>T MANE Select	NP_004811.1:p.His139Tyr
NM_001324112.2:c.415C>T	NP_001311041.1:p.His139Tyr