Canonical Allele Identifier: CA10628221

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 363593
• ClinVar RCV Id: RCV000353227 ; RCV001555099
• dbSNP Id: rs6994347
• gnomAD v2: 8-65711233-G-C
• gnomAD v3: 8-64798676-G-C
• gnomAD v4: 8-64798676-G-C
• MyVariant Identifiers: chr8:g.65711233G>C (hg19) ; chr8:g.64798676G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64798676G>C , CM000670.2:g.64798676G>C	GRCh38
NC_000008.10:g.65711233G>C , CM000670.1:g.65711233G>C	GRCh37
NC_000008.9:g.65873787G>C	NCBI36
NG_008338.1:g.5116C>G
NG_008338.2:g.5116C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.-89C>G MANE Select	ENSP00000310721.3:n.-89C>G
ENST00000310193.3:c.-89C>G	ENSP00000310721.3:n.-89C>G
NM_004820.3:c.-89C>G	NP_004811.1:n.-89C>G
NM_001324112.1:c.-89C>G	NP_001311041.1:n.-89C>G
NM_004820.4:c.-89C>G	NP_004811.1:n.-89C>G
NM_004820.5:c.-89C>G MANE Select	NP_004811.1:n.-89C>G
NM_001324112.2:c.-89C>G	NP_001311041.1:n.-89C>G