Canonical Allele Identifier: CA179061869

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 502522
• ClinVar RCV Id: RCV000597899 ; RCV002062103 ; RCV001644701 ; RCV001163747 ; RCV003953003
• dbSNP Id: rs571177831
• gnomAD v2: 8-65711055-G-A
• gnomAD v3: 8-64798498-G-A
• gnomAD v4: 8-64798498-G-A
• MyVariant Identifiers: chr8:g.65711055G>A (hg19) ; chr8:g.64798498G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64798498G>A , CM000670.2:g.64798498G>A	GRCh38
NC_000008.10:g.65711055G>A , CM000670.1:g.65711055G>A	GRCh37
NC_000008.9:g.65873609G>A	NCBI36
NG_008338.1:g.5294C>T
NG_008338.2:g.5294C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.90C>T MANE Select	ENSP00000310721.3:p.Leu30=
ENST00000310193.3:c.90C>T	ENSP00000310721.3:p.Leu30=
NM_004820.3:c.90C>T	NP_004811.1:p.Leu30=
NM_001324112.1:c.90C>T	NP_001311041.1:p.Leu30=
NM_004820.4:c.90C>T	NP_004811.1:p.Leu30=
NM_004820.5:c.90C>T MANE Select	NP_004811.1:p.Leu30=
NM_001324112.2:c.90C>T	NP_001311041.1:p.Leu30=