Canonical Allele Identifier: CA461118318
Gene: CYP7B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.65517394A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64604837A>G , CM000670.2:g.64604837A>G GRCh38
NC_000008.10:g.65517394A>G , CM000670.1:g.65517394A>G GRCh37
NC_000008.9:g.65679948A>G NCBI36
NG_008338.1:g.198955T>C
NG_008338.2:g.198955T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000310193.4:c.1078T>C MANE Select ENSP00000310721.3:p.Leu360=
ENST00000310193.3:c.1078T>C ENSP00000310721.3:p.Leu360=
ENST00000523954.1:n.352T>C
NM_004820.3:c.1078T>C NP_004811.1:p.Leu360=
NM_001324112.1:c.1078T>C NP_001311041.1:p.Leu360=
NM_004820.4:c.1078T>C NP_004811.1:p.Leu360=
XM_017014002.1:c.1144T>C XP_016869491.1:p.Leu382=
NM_004820.5:c.1078T>C MANE Select NP_004811.1:p.Leu360=
NM_001324112.2:c.1078T>C NP_001311041.1:p.Leu360=