Canonical Allele Identifier: CA371338801

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 1516569
• ClinVar RCV Id: RCV002026697
• dbSNP Id: rs1412631149
• MyVariant Identifiers: chr8:g.65537052A>G (hg19) ; chr8:g.64624495A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624495A>G , CM000670.2:g.64624495A>G	GRCh38
NC_000008.10:g.65537052A>G , CM000670.1:g.65537052A>G	GRCh37
NC_000008.9:g.65699606A>G	NCBI36
NG_008338.1:g.179297T>C
NG_008338.2:g.179297T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310193.4:c.167T>C MANE Select	ENSP00000310721.3:p.Leu56Pro
ENST00000310193.3:c.167T>C	ENSP00000310721.3:p.Leu56Pro
NM_004820.3:c.167T>C	NP_004811.1:p.Leu56Pro
NM_001324112.1:c.167T>C	NP_001311041.1:p.Leu56Pro
NM_004820.4:c.167T>C	NP_004811.1:p.Leu56Pro
XM_017014002.1:c.233T>C	XP_016869491.1:p.Leu78Pro
NM_004820.5:c.167T>C MANE Select	NP_004811.1:p.Leu56Pro
NM_001324112.2:c.167T>C	NP_001311041.1:p.Leu56Pro