Canonical Allele Identifier: CA461118220

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 2955767
• ClinVar RCV Id: RCV003810918
• gnomAD v4: 8-64604727-A-G
• MyVariant Identifiers: chr8:g.65517284A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64604727A>G , CM000670.2:g.64604727A>G	GRCh38
NC_000008.10:g.65517284A>G , CM000670.1:g.65517284A>G	GRCh37
NC_000008.9:g.65679838A>G	NCBI36
NG_008338.1:g.199065T>C
NG_008338.2:g.199065T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310193.4:c.1188T>C MANE Select	ENSP00000310721.3:p.Phe396=
ENST00000310193.3:c.1188T>C	ENSP00000310721.3:p.Phe396=
ENST00000523954.1:n.462T>C
NM_004820.3:c.1188T>C	NP_004811.1:p.Phe396=
NM_001324112.1:c.1188T>C	NP_001311041.1:p.Phe396=
NM_004820.4:c.1188T>C	NP_004811.1:p.Phe396=
XM_017014002.1:c.1254T>C	XP_016869491.1:p.Phe418=
NM_004820.5:c.1188T>C MANE Select	NP_004811.1:p.Phe396=
NM_001324112.2:c.1188T>C	NP_001311041.1:p.Phe396=