Canonical Allele Identifier: CA4764302

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 282111
• ClinVar RCV Id: RCV000397800 ; RCV001519989 ; RCV001660541 ; RCV001660542
• dbSNP Id: rs7842714
• ExAC: 8:65711004 T / A
• gnomAD v2: 8-65711004-T-A
• gnomAD v3: 8-64798447-T-A
• gnomAD v4: 8-64798447-T-A
• MyVariant Identifiers: chr8:g.65711004T>A (hg19) ; chr8:g.64798447T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64798447T>A , CM000670.2:g.64798447T>A	GRCh38
NC_000008.10:g.65711004T>A , CM000670.1:g.65711004T>A	GRCh37
NC_000008.9:g.65873558T>A	NCBI36
NG_008338.1:g.5345A>T
NG_008338.2:g.5345A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.122+19A>T MANE Select	ENSP00000310721.3:n.122+19A>T
ENST00000310193.3:c.122+19A>T	ENSP00000310721.3:n.122+19A>T
NM_004820.3:c.122+19A>T	NP_004811.1:n.122+19A>T
NM_001324112.1:c.122+19A>T	NP_001311041.1:n.122+19A>T
NM_004820.4:c.122+19A>T	NP_004811.1:n.122+19A>T
NM_004820.5:c.122+19A>T MANE Select	NP_004811.1:n.122+19A>T
NM_001324112.2:c.122+19A>T	NP_001311041.1:n.122+19A>T