Canonical Allele Identifier: CA178391948

Gene: CYP7B1

Linked Data

• dbSNP Id: rs778714842
• gnomAD v4: 8-64624476-T-G
• MyVariant Identifiers: chr8:g.65537033T>G (hg19) ; chr8:g.64624476T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624476T>G , CM000670.2:g.64624476T>G	GRCh38
NC_000008.10:g.65537033T>G , CM000670.1:g.65537033T>G	GRCh37
NC_000008.9:g.65699587T>G	NCBI36
NG_008338.1:g.179316A>C
NG_008338.2:g.179316A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.186A>C MANE Select	ENSP00000310721.3:p.Leu62Phe
ENST00000310193.3:c.186A>C	ENSP00000310721.3:p.Leu62Phe
NM_004820.3:c.186A>C	NP_004811.1:p.Leu62Phe
NM_001324112.1:c.186A>C	NP_001311041.1:p.Leu62Phe
NM_004820.4:c.186A>C	NP_004811.1:p.Leu62Phe
XM_017014002.1:c.252A>C	XP_016869491.1:p.Leu84Phe
NM_004820.5:c.186A>C MANE Select	NP_004811.1:p.Leu62Phe
NM_001324112.2:c.186A>C	NP_001311041.1:p.Leu62Phe