Canonical Allele Identifier: CA371338423

Gene: CYP7B1

Linked Data

• gnomAD v4: 8-64624445-G-C
• MyVariant Identifiers: chr8:g.65537002G>C (hg19) ; chr8:g.64624445G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624445G>C , CM000670.2:g.64624445G>C	GRCh38
NC_000008.10:g.65537002G>C , CM000670.1:g.65537002G>C	GRCh37
NC_000008.9:g.65699556G>C	NCBI36
NG_008338.1:g.179347C>G
NG_008338.2:g.179347C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.217C>G MANE Select	ENSP00000310721.3:p.Leu73Val
ENST00000310193.3:c.217C>G	ENSP00000310721.3:p.Leu73Val
NM_004820.3:c.217C>G	NP_004811.1:p.Leu73Val
NM_001324112.1:c.217C>G	NP_001311041.1:p.Leu73Val
NM_004820.4:c.217C>G	NP_004811.1:p.Leu73Val
XM_017014002.1:c.283C>G	XP_016869491.1:p.Leu95Val
NM_004820.5:c.217C>G MANE Select	NP_004811.1:p.Leu73Val
NM_001324112.2:c.217C>G	NP_001311041.1:p.Leu73Val