Canonical Allele Identifier: CA117938

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 6100
• ClinVar RCV Id: RCV000006474 ; RCV000006473 ; RCV000800899
• dbSNP Id: rs72554620
• ExAC: 8:65517310 G / A
• gnomAD v2: 8-65517310-G-A
• gnomAD v3: 8-64604753-G-A
• gnomAD v4: 8-64604753-G-A
• COSMIC: COSM6181180
• MyVariant Identifiers: chr8:g.65517310G>A (hg19) ; chr8:g.64604753G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64604753G>A , CM000670.2:g.64604753G>A	GRCh38
NC_000008.10:g.65517310G>A , CM000670.1:g.65517310G>A	GRCh37
NC_000008.9:g.65679864G>A	NCBI36
NG_008338.1:g.199039C>T
NG_008338.2:g.199039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.1162C>T MANE Select	ENSP00000310721.3:p.Arg388Ter
ENST00000310193.3:c.1162C>T	ENSP00000310721.3:p.Arg388Ter
ENST00000523954.1:n.436C>T
NM_004820.3:c.1162C>T	NP_004811.1:p.Arg388Ter
NM_001324112.1:c.1162C>T	NP_001311041.1:p.Arg388Ter
NM_004820.4:c.1162C>T	NP_004811.1:p.Arg388Ter
XM_017014002.1:c.1228C>T	XP_016869491.1:p.Arg410Ter
NM_004820.5:c.1162C>T MANE Select	NP_004811.1:p.Arg388Ter
NM_001324112.2:c.1162C>T	NP_001311041.1:p.Arg388Ter