Canonical Allele Identifier: CA582409067

Gene: CYP7B1

Linked Data

• dbSNP Id: rs1318488830
• gnomAD v2: 8-65536830-A-C
• gnomAD v4: 8-64624273-A-C
• MyVariant Identifiers: chr8:g.65536830A>C (hg19) ; chr8:g.64624273A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624273A>C , CM000670.2:g.64624273A>C	GRCh38
NC_000008.10:g.65536830A>C , CM000670.1:g.65536830A>C	GRCh37
NC_000008.9:g.65699384A>C	NCBI36
NG_008338.1:g.179519T>G
NG_008338.2:g.179519T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.259+130T>G MANE Select	ENSP00000310721.3:n.259+130T>G
ENST00000310193.3:c.259+130T>G	ENSP00000310721.3:n.259+130T>G
NM_004820.3:c.259+130T>G	NP_004811.1:n.259+130T>G
NM_001324112.1:c.259+130T>G	NP_001311041.1:n.259+130T>G
NM_004820.4:c.259+130T>G	NP_004811.1:n.259+130T>G
XM_017014002.1:c.325+130T>G	XP_016869491.1:n.325+130T>G
NM_004820.5:c.259+130T>G MANE Select	NP_004811.1:n.259+130T>G
NM_001324112.2:c.259+130T>G	NP_001311041.1:n.259+130T>G