Canonical Allele Identifier: CA371335598
Gene: CYP7B1 HGNC NCBI

Linked Data

gnomAD v4: 8-64616036-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64616036G>T , CM000670.2:g.64616036G>T GRCh38
NC_000008.10:g.65528593G>T , CM000670.1:g.65528593G>T GRCh37
NC_000008.9:g.65691147G>T NCBI36
NG_008338.1:g.187756C>A
NG_008338.2:g.187756C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.505C>A MANE Select ENSP00000310721.3:p.Leu169Met
ENST00000310193.3:c.505C>A ENSP00000310721.3:p.Leu169Met
NM_004820.3:c.505C>A NP_004811.1:p.Leu169Met
NM_001324112.1:c.505C>A NP_001311041.1:p.Leu169Met
NM_004820.4:c.505C>A NP_004811.1:p.Leu169Met
XM_017014002.1:c.571C>A XP_016869491.1:p.Leu191Met
NM_004820.5:c.505C>A MANE Select NP_004811.1:p.Leu169Met
NM_001324112.2:c.505C>A NP_001311041.1:p.Leu169Met