Canonical Allele Identifier: CA582409120

Gene: CYP7B1

Linked Data

• dbSNP Id: rs1444640151
• gnomAD v2: 8-65537104-G-A
• gnomAD v3: 8-64624547-G-A
• gnomAD v4: 8-64624547-G-A
• MyVariant Identifiers: chr8:g.65537104G>A (hg19) ; chr8:g.65537104_65537107delinsAAAA (hg19) ; chr8:g.64624547G>A (hg38) ; chr8:g.64624547_64624550delinsAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624547G>A , CM000670.2:g.64624547G>A	GRCh38
NC_000008.10:g.65537104G>A , CM000670.1:g.65537104G>A	GRCh37
NC_000008.9:g.65699658G>A	NCBI36
NG_008338.1:g.179245C>T
NG_008338.2:g.179245C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.123-8C>T MANE Select	ENSP00000310721.3:n.123-8C>T
ENST00000310193.3:c.123-8C>T	ENSP00000310721.3:n.123-8C>T
NM_004820.3:c.123-8C>T	NP_004811.1:n.123-8C>T
NM_001324112.1:c.123-8C>T	NP_001311041.1:n.123-8C>T
NM_004820.4:c.123-8C>T	NP_004811.1:n.123-8C>T
XM_017014002.1:c.189-8C>T	XP_016869491.1:n.189-8C>T
NM_004820.5:c.123-8C>T MANE Select	NP_004811.1:n.123-8C>T
NM_001324112.2:c.123-8C>T	NP_001311041.1:n.123-8C>T