Canonical Allele Identifier: CA4764295

Gene: CYP7B1

Linked Data

• dbSNP Id: rs577577909
• ExAC: 8:65537118 T / A
• gnomAD v2: 8-65537118-T-A
• MyVariant Identifiers: chr8:g.65537118T>A (hg19) ; chr8:g.64624561T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624561T>A , CM000670.2:g.64624561T>A	GRCh38
NC_000008.10:g.65537118T>A , CM000670.1:g.65537118T>A	GRCh37
NC_000008.9:g.65699672T>A	NCBI36
NG_008338.1:g.179231A>T
NG_008338.2:g.179231A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.123-22A>T MANE Select	ENSP00000310721.3:n.123-22A>T
ENST00000310193.3:c.123-22A>T	ENSP00000310721.3:n.123-22A>T
NM_004820.3:c.123-22A>T	NP_004811.1:n.123-22A>T
NM_001324112.1:c.123-22A>T	NP_001311041.1:n.123-22A>T
NM_004820.4:c.123-22A>T	NP_004811.1:n.123-22A>T
XM_017014002.1:c.189-22A>T	XP_016869491.1:n.189-22A>T
NM_004820.5:c.123-22A>T MANE Select	NP_004811.1:n.123-22A>T
NM_001324112.2:c.123-22A>T	NP_001311041.1:n.123-22A>T