Canonical Allele Identifier: CA371339023

Gene: CYP7B1

Linked Data

• dbSNP Id: rs760725237
• gnomAD v2: 8-65537089-C-A
• gnomAD v4: 8-64624532-C-A
• MyVariant Identifiers: chr8:g.65537089C>A (hg19) ; chr8:g.64624532C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624532C>A , CM000670.2:g.64624532C>A	GRCh38
NC_000008.10:g.65537089C>A , CM000670.1:g.65537089C>A	GRCh37
NC_000008.9:g.65699643C>A	NCBI36
NG_008338.1:g.179260G>T
NG_008338.2:g.179260G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.130G>T MANE Select	ENSP00000310721.3:p.Gly44Cys
ENST00000310193.3:c.130G>T	ENSP00000310721.3:p.Gly44Cys
NM_004820.3:c.130G>T	NP_004811.1:p.Gly44Cys
NM_001324112.1:c.130G>T	NP_001311041.1:p.Gly44Cys
NM_004820.4:c.130G>T	NP_004811.1:p.Gly44Cys
XM_017014002.1:c.196G>T	XP_016869491.1:p.Gly66Cys
NM_004820.5:c.130G>T MANE Select	NP_004811.1:p.Gly44Cys
NM_001324112.2:c.130G>T	NP_001311041.1:p.Gly44Cys