Canonical Allele Identifier: CA461121025

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 2761298
• ClinVar RCV Id: RCV003590272
• MyVariant Identifiers: chr8:g.65537042G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624485G>A , CM000670.2:g.64624485G>A	GRCh38
NC_000008.10:g.65537042G>A , CM000670.1:g.65537042G>A	GRCh37
NC_000008.9:g.65699596G>A	NCBI36
NG_008338.1:g.179307C>T
NG_008338.2:g.179307C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.177C>T MANE Select	ENSP00000310721.3:p.Val59=
ENST00000310193.3:c.177C>T	ENSP00000310721.3:p.Val59=
NM_004820.3:c.177C>T	NP_004811.1:p.Val59=
NM_001324112.1:c.177C>T	NP_001311041.1:p.Val59=
NM_004820.4:c.177C>T	NP_004811.1:p.Val59=
XM_017014002.1:c.243C>T	XP_016869491.1:p.Val81=
NM_004820.5:c.177C>T MANE Select	NP_004811.1:p.Val59=
NM_001324112.2:c.177C>T	NP_001311041.1:p.Val59=