Canonical Allele Identifier: CA461422311
Gene: CYP7B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.65528786T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64616229T>C , CM000670.2:g.64616229T>C GRCh38
NC_000008.10:g.65528786T>C , CM000670.1:g.65528786T>C GRCh37
NC_000008.9:g.65691340T>C NCBI36
NG_008338.1:g.187563A>G
NG_008338.2:g.187563A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.312A>G MANE Select ENSP00000310721.3:p.Lys104=
ENST00000310193.3:c.312A>G ENSP00000310721.3:p.Lys104=
NM_004820.3:c.312A>G NP_004811.1:p.Lys104=
NM_001324112.1:c.312A>G NP_001311041.1:p.Lys104=
NM_004820.4:c.312A>G NP_004811.1:p.Lys104=
XM_017014002.1:c.378A>G XP_016869491.1:p.Lys126=
NM_004820.5:c.312A>G MANE Select NP_004811.1:p.Lys104=
NM_001324112.2:c.312A>G NP_001311041.1:p.Lys104=