Canonical Allele Identifier: CA10625738

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 363592
• ClinVar RCV Id: RCV000349675
• dbSNP Id: rs72554625
• gnomAD v2: 8-65711217-T-G
• gnomAD v3: 8-64798660-T-G
• gnomAD v4: 8-64798660-T-G
• MyVariant Identifiers: chr8:g.65711217T>G (hg19) ; chr8:g.64798660T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64798660T>G , CM000670.2:g.64798660T>G	GRCh38
NC_000008.10:g.65711217T>G , CM000670.1:g.65711217T>G	GRCh37
NC_000008.9:g.65873771T>G	NCBI36
NG_008338.1:g.5132A>C
NG_008338.2:g.5132A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.-73A>C MANE Select	ENSP00000310721.3:n.-73A>C
ENST00000310193.3:c.-73A>C	ENSP00000310721.3:n.-73A>C
NM_004820.3:c.-73A>C	NP_004811.1:n.-73A>C
NM_001324112.1:c.-73A>C	NP_001311041.1:n.-73A>C
NM_004820.4:c.-73A>C	NP_004811.1:n.-73A>C
NM_004820.5:c.-73A>C MANE Select	NP_004811.1:n.-73A>C
NM_001324112.2:c.-73A>C	NP_001311041.1:n.-73A>C