Canonical Allele Identifier: CA210987

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 120179
• ClinVar RCV Id: RCV000106302 ; RCV000200232 ; RCV000422978 ; RCV003415876
• dbSNP Id: rs587777222
• ExAC: 8:65527751 T / C
• gnomAD v2: 8-65527751-T-C
• gnomAD v3: 8-64615194-T-C
• gnomAD v4: 8-64615194-T-C
• MyVariant Identifiers: chr8:g.65527751T>C (hg19) ; chr8:g.64615194T>C (hg38)
• PubMed: PMID:19439420 ; PMID:21214876

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64615194T>C , CM000670.2:g.64615194T>C	GRCh38
NC_000008.10:g.65527751T>C , CM000670.1:g.65527751T>C	GRCh37
NC_000008.9:g.65690305T>C	NCBI36
NG_008338.1:g.188598A>G
NG_008338.2:g.188598A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.889A>G MANE Select	ENSP00000310721.3:p.Thr297Ala
ENST00000310193.3:c.889A>G	ENSP00000310721.3:p.Thr297Ala
ENST00000523954.1:n.163A>G
NM_004820.3:c.889A>G	NP_004811.1:p.Thr297Ala
NM_001324112.1:c.889A>G	NP_001311041.1:p.Thr297Ala
NM_004820.4:c.889A>G	NP_004811.1:p.Thr297Ala
XM_017014002.1:c.955A>G	XP_016869491.1:p.Thr319Ala
NM_004820.5:c.889A>G MANE Select	NP_004811.1:p.Thr297Ala
NM_001324112.2:c.889A>G	NP_001311041.1:p.Thr297Ala