Canonical Allele Identifier: CA4764297

Gene: CYP7B1

Linked Data

• dbSNP Id: rs746921443
• ExAC: 8:65537126 C / G
• gnomAD v2: 8-65537126-C-G
• gnomAD v4: 8-64624569-C-G
• MyVariant Identifiers: chr8:g.65537126C>G (hg19) ; chr8:g.64624569C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624569C>G , CM000670.2:g.64624569C>G	GRCh38
NC_000008.10:g.65537126C>G , CM000670.1:g.65537126C>G	GRCh37
NC_000008.9:g.65699680C>G	NCBI36
NG_008338.1:g.179223G>C
NG_008338.2:g.179223G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.123-30G>C MANE Select	ENSP00000310721.3:n.123-30G>C
ENST00000310193.3:c.123-30G>C	ENSP00000310721.3:n.123-30G>C
NM_004820.3:c.123-30G>C	NP_004811.1:n.123-30G>C
NM_001324112.1:c.123-30G>C	NP_001311041.1:n.123-30G>C
NM_004820.4:c.123-30G>C	NP_004811.1:n.123-30G>C
XM_017014002.1:c.189-30G>C	XP_016869491.1:n.189-30G>C
NM_004820.5:c.123-30G>C MANE Select	NP_004811.1:n.123-30G>C
NM_001324112.2:c.123-30G>C	NP_001311041.1:n.123-30G>C