Canonical Allele Identifier: CA461118232
Gene: CYP7B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.65517293T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64604736T>C , CM000670.2:g.64604736T>C GRCh38
NC_000008.10:g.65517293T>C , CM000670.1:g.65517293T>C GRCh37
NC_000008.9:g.65679847T>C NCBI36
NG_008338.1:g.199056A>G
NG_008338.2:g.199056A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000310193.4:c.1179A>G MANE Select ENSP00000310721.3:p.Val393=
ENST00000310193.3:c.1179A>G ENSP00000310721.3:p.Val393=
ENST00000523954.1:n.453A>G
NM_004820.3:c.1179A>G NP_004811.1:p.Val393=
NM_001324112.1:c.1179A>G NP_001311041.1:p.Val393=
NM_004820.4:c.1179A>G NP_004811.1:p.Val393=
XM_017014002.1:c.1245A>G XP_016869491.1:p.Val415=
NM_004820.5:c.1179A>G MANE Select NP_004811.1:p.Val393=
NM_001324112.2:c.1179A>G NP_001311041.1:p.Val393=
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