Canonical Allele Identifier: CA461118315
Gene: CYP7B1 HGNC NCBI

Linked Data

gnomAD v4: 8-64604832-T-C
MyVariant Identifiers: chr8:g.65517389T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64604832T>C , CM000670.2:g.64604832T>C GRCh38
NC_000008.10:g.65517389T>C , CM000670.1:g.65517389T>C GRCh37
NC_000008.9:g.65679943T>C NCBI36
NG_008338.1:g.198960A>G
NG_008338.2:g.198960A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000310193.4:c.1083A>G MANE Select ENSP00000310721.3:p.Arg361=
ENST00000310193.3:c.1083A>G ENSP00000310721.3:p.Arg361=
ENST00000523954.1:n.357A>G
NM_004820.3:c.1083A>G NP_004811.1:p.Arg361=
NM_001324112.1:c.1083A>G NP_001311041.1:p.Arg361=
NM_004820.4:c.1083A>G NP_004811.1:p.Arg361=
XM_017014002.1:c.1149A>G XP_016869491.1:p.Arg383=
NM_004820.5:c.1083A>G MANE Select NP_004811.1:p.Arg361=
NM_001324112.2:c.1083A>G NP_001311041.1:p.Arg361=