Canonical Allele Identifier: CA371338760
Gene: CYP7B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624489A>G , CM000670.2:g.64624489A>G GRCh38
NC_000008.10:g.65537046A>G , CM000670.1:g.65537046A>G GRCh37
NC_000008.9:g.65699600A>G NCBI36
NG_008338.1:g.179303T>C
NG_008338.2:g.179303T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.173T>C MANE Select ENSP00000310721.3:p.Val58Ala
ENST00000310193.3:c.173T>C ENSP00000310721.3:p.Val58Ala
NM_004820.3:c.173T>C NP_004811.1:p.Val58Ala
NM_001324112.1:c.173T>C NP_001311041.1:p.Val58Ala
NM_004820.4:c.173T>C NP_004811.1:p.Val58Ala
XM_017014002.1:c.239T>C XP_016869491.1:p.Val80Ala
NM_004820.5:c.173T>C MANE Select NP_004811.1:p.Val58Ala
NM_001324112.2:c.173T>C NP_001311041.1:p.Val58Ala