Canonical Allele Identifier: CA371334093

Gene: CYP7B1

Linked Data

• MyVariant Identifiers: chr8:g.65517289T>A (hg19) ; chr8:g.64604732T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64604732T>A , CM000670.2:g.64604732T>A	GRCh38
NC_000008.10:g.65517289T>A , CM000670.1:g.65517289T>A	GRCh37
NC_000008.9:g.65679843T>A	NCBI36
NG_008338.1:g.199060A>T
NG_008338.2:g.199060A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310193.4:c.1183A>T MANE Select	ENSP00000310721.3:p.Ile395Phe
ENST00000310193.3:c.1183A>T	ENSP00000310721.3:p.Ile395Phe
ENST00000523954.1:n.457A>T
NM_004820.3:c.1183A>T	NP_004811.1:p.Ile395Phe
NM_001324112.1:c.1183A>T	NP_001311041.1:p.Ile395Phe
NM_004820.4:c.1183A>T	NP_004811.1:p.Ile395Phe
XM_017014002.1:c.1249A>T	XP_016869491.1:p.Ile417Phe
NM_004820.5:c.1183A>T MANE Select	NP_004811.1:p.Ile395Phe
NM_001324112.2:c.1183A>T	NP_001311041.1:p.Ile395Phe