Canonical Allele Identifier: CA461118317

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 1565967
• ClinVar RCV Id: RCV002220149
• dbSNP Id: rs2129629946
• MyVariant Identifiers: chr8:g.65517392T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64604835T>C , CM000670.2:g.64604835T>C	GRCh38
NC_000008.10:g.65517392T>C , CM000670.1:g.65517392T>C	GRCh37
NC_000008.9:g.65679946T>C	NCBI36
NG_008338.1:g.198957A>G
NG_008338.2:g.198957A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000310193.4:c.1080A>G MANE Select	ENSP00000310721.3:p.Leu360=
ENST00000310193.3:c.1080A>G	ENSP00000310721.3:p.Leu360=
ENST00000523954.1:n.354A>G
NM_004820.3:c.1080A>G	NP_004811.1:p.Leu360=
NM_001324112.1:c.1080A>G	NP_001311041.1:p.Leu360=
NM_004820.4:c.1080A>G	NP_004811.1:p.Leu360=
XM_017014002.1:c.1146A>G	XP_016869491.1:p.Leu382=
NM_004820.5:c.1080A>G MANE Select	NP_004811.1:p.Leu360=
NM_001324112.2:c.1080A>G	NP_001311041.1:p.Leu360=