Canonical Allele Identifier: CA4764200
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 502050
ClinVar RCV Id: RCV000592907 RCV001854101
dbSNP Id: rs775784484
ExAC: 8:65528620 T / C
gnomAD v2: 8-65528620-T-C
gnomAD v3: 8-64616063-T-C
gnomAD v4: 8-64616063-T-C
MyVariant Identifiers: chr8:g.65528620T>C (hg19) chr8:g.64616063T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64616063T>C , CM000670.2:g.64616063T>C GRCh38
NC_000008.10:g.65528620T>C , CM000670.1:g.65528620T>C GRCh37
NC_000008.9:g.65691174T>C NCBI36
NG_008338.1:g.187729A>G
NG_008338.2:g.187729A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.478A>G MANE Select ENSP00000310721.3:p.Asn160Asp
ENST00000310193.3:c.478A>G ENSP00000310721.3:p.Asn160Asp
NM_004820.3:c.478A>G NP_004811.1:p.Asn160Asp
NM_001324112.1:c.478A>G NP_001311041.1:p.Asn160Asp
NM_004820.4:c.478A>G NP_004811.1:p.Asn160Asp
XM_017014002.1:c.544A>G XP_016869491.1:p.Asn182Asp
NM_004820.5:c.478A>G MANE Select NP_004811.1:p.Asn160Asp
NM_001324112.2:c.478A>G NP_001311041.1:p.Asn160Asp
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