Canonical Allele Identifier: CA4764265
Gene: CYP7B1 HGNC NCBI

Linked Data

dbSNP Id: rs755394146
ExAC: 8:65536969 G / A
gnomAD v2: 8-65536969-G-A
gnomAD v3: 8-64624412-G-A
gnomAD v4: 8-64624412-G-A
MyVariant Identifiers: chr8:g.65536969G>A (hg19) chr8:g.64624412G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624412G>A , CM000670.2:g.64624412G>A GRCh38
NC_000008.10:g.65536969G>A , CM000670.1:g.65536969G>A GRCh37
NC_000008.9:g.65699523G>A NCBI36
NG_008338.1:g.179380C>T
NG_008338.2:g.179380C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.250C>T MANE Select ENSP00000310721.3:p.Leu84Phe
ENST00000310193.3:c.250C>T ENSP00000310721.3:p.Leu84Phe
NM_004820.3:c.250C>T NP_004811.1:p.Leu84Phe
NM_001324112.1:c.250C>T NP_001311041.1:p.Leu84Phe
NM_004820.4:c.250C>T NP_004811.1:p.Leu84Phe
XM_017014002.1:c.316C>T XP_016869491.1:p.Leu106Phe
NM_004820.5:c.250C>T MANE Select NP_004811.1:p.Leu84Phe
NM_001324112.2:c.250C>T NP_001311041.1:p.Leu84Phe
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