Canonical Allele Identifier: CA371338728

Gene: CYP7B1

Linked Data

• dbSNP Id: rs1346971465
• gnomAD v2: 8-65537041-G-T
• gnomAD v4: 8-64624484-G-T
• MyVariant Identifiers: chr8:g.65537041G>T (hg19) ; chr8:g.64624484G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624484G>T , CM000670.2:g.64624484G>T	GRCh38
NC_000008.10:g.65537041G>T , CM000670.1:g.65537041G>T	GRCh37
NC_000008.9:g.65699595G>T	NCBI36
NG_008338.1:g.179308C>A
NG_008338.2:g.179308C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.178C>A MANE Select	ENSP00000310721.3:p.Leu60Met
ENST00000310193.3:c.178C>A	ENSP00000310721.3:p.Leu60Met
NM_004820.3:c.178C>A	NP_004811.1:p.Leu60Met
NM_001324112.1:c.178C>A	NP_001311041.1:p.Leu60Met
NM_004820.4:c.178C>A	NP_004811.1:p.Leu60Met
XM_017014002.1:c.244C>A	XP_016869491.1:p.Leu82Met
NM_004820.5:c.178C>A MANE Select	NP_004811.1:p.Leu60Met
NM_001324112.2:c.178C>A	NP_001311041.1:p.Leu60Met