Canonical Allele Identifier: CA4764055

Gene: CYP7B1

Linked Data

• dbSNP Id: rs767519739
• ExAC: 8:65517395 A / C
• gnomAD v2: 8-65517395-A-C
• gnomAD v4: 8-64604838-A-C
• MyVariant Identifiers: chr8:g.65517395A>C (hg19) ; chr8:g.64604838A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64604838A>C , CM000670.2:g.64604838A>C	GRCh38
NC_000008.10:g.65517395A>C , CM000670.1:g.65517395A>C	GRCh37
NC_000008.9:g.65679949A>C	NCBI36
NG_008338.1:g.198954T>G
NG_008338.2:g.198954T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000310193.4:c.1077T>G MANE Select	ENSP00000310721.3:p.Ala359=
ENST00000310193.3:c.1077T>G	ENSP00000310721.3:p.Ala359=
ENST00000523954.1:n.351T>G
NM_004820.3:c.1077T>G	NP_004811.1:p.Ala359=
NM_001324112.1:c.1077T>G	NP_001311041.1:p.Ala359=
NM_004820.4:c.1077T>G	NP_004811.1:p.Ala359=
XM_017014002.1:c.1143T>G	XP_016869491.1:p.Ala381=
NM_004820.5:c.1077T>G MANE Select	NP_004811.1:p.Ala359=
NM_001324112.2:c.1077T>G	NP_001311041.1:p.Ala359=