Canonical Allele Identifier: CA4764140

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 452800
• ClinVar RCV Id: RCV000523484 ; RCV000818995 ; RCV001848918 ; RCV003905317
• dbSNP Id: rs202155727
• ExAC: 8:65528243 C / G
• gnomAD v2: 8-65528243-C-G
• gnomAD v3: 8-64615686-C-G
• gnomAD v4: 8-64615686-C-G
• MyVariant Identifiers: chr8:g.65528243C>G (hg19) ; chr8:g.64615686C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64615686C>G , CM000670.2:g.64615686C>G	GRCh38
NC_000008.10:g.65528243C>G , CM000670.1:g.65528243C>G	GRCh37
NC_000008.9:g.65690797C>G	NCBI36
NG_008338.1:g.188106G>C
NG_008338.2:g.188106G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.850+5G>C MANE Select	ENSP00000310721.3:n.850+5G>C
ENST00000310193.3:c.850+5G>C	ENSP00000310721.3:n.850+5G>C
ENST00000523954.1:n.124+5G>C
NM_004820.3:c.850+5G>C	NP_004811.1:n.850+5G>C
NM_001324112.1:c.850+5G>C	NP_001311041.1:n.850+5G>C
NM_004820.4:c.850+5G>C	NP_004811.1:n.850+5G>C
XM_017014002.1:c.916+5G>C	XP_016869491.1:n.916+5G>C
NM_004820.5:c.850+5G>C MANE Select	NP_004811.1:n.850+5G>C
NM_001324112.2:c.850+5G>C	NP_001311041.1:n.850+5G>C