Canonical Allele Identifier: CA371338975
Gene: CYP7B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624520A>C , CM000670.2:g.64624520A>C GRCh38
NC_000008.10:g.65537077A>C , CM000670.1:g.65537077A>C GRCh37
NC_000008.9:g.65699631A>C NCBI36
NG_008338.1:g.179272T>G
NG_008338.2:g.179272T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.142T>G MANE Select ENSP00000310721.3:p.Leu48Val
ENST00000310193.3:c.142T>G ENSP00000310721.3:p.Leu48Val
NM_004820.3:c.142T>G NP_004811.1:p.Leu48Val
NM_001324112.1:c.142T>G NP_001311041.1:p.Leu48Val
NM_004820.4:c.142T>G NP_004811.1:p.Leu48Val
XM_017014002.1:c.208T>G XP_016869491.1:p.Leu70Val
NM_004820.5:c.142T>G MANE Select NP_004811.1:p.Leu48Val
NM_001324112.2:c.142T>G NP_001311041.1:p.Leu48Val