Canonical Allele Identifier: CA1789667942
Gene: CYP7B1 HGNC NCBI

Linked Data

dbSNP Id: rs1671218983
gnomAD v4: 8-64624262-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624262A>G , CM000670.2:g.64624262A>G GRCh38
NC_000008.10:g.65536819A>G , CM000670.1:g.65536819A>G GRCh37
NC_000008.9:g.65699373A>G NCBI36
NG_008338.1:g.179530T>C
NG_008338.2:g.179530T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.259+141T>C MANE Select ENSP00000310721.3:n.259+141T>C
ENST00000310193.3:c.259+141T>C ENSP00000310721.3:n.259+141T>C
NM_004820.3:c.259+141T>C NP_004811.1:n.259+141T>C
NM_001324112.1:c.259+141T>C NP_001311041.1:n.259+141T>C
NM_004820.4:c.259+141T>C NP_004811.1:n.259+141T>C
XM_017014002.1:c.325+141T>C XP_016869491.1:n.325+141T>C
NM_004820.5:c.259+141T>C MANE Select NP_004811.1:n.259+141T>C
NM_001324112.2:c.259+141T>C NP_001311041.1:n.259+141T>C
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