Canonical Allele Identifier: CA179054391

Gene: CYP7B1

Linked Data

• dbSNP Id: rs1005360925
• gnomAD v2: 8-65640122-C-T
• gnomAD v3: 8-64727565-C-T
• gnomAD v4: 8-64727565-C-T
• MyVariant Identifiers: chr8:g.65640122C>T (hg19) ; chr8:g.64727565C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64727565C>T , CM000670.2:g.64727565C>T	GRCh38
NC_000008.10:g.65640122C>T , CM000670.1:g.65640122C>T	GRCh37
NC_000008.9:g.65802676C>T	NCBI36
NG_008338.1:g.76227G>A
NG_008338.2:g.76227G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.122+70901G>A MANE Select	ENSP00000310721.3:n.122+70901G>A
ENST00000310193.3:c.122+70901G>A	ENSP00000310721.3:n.122+70901G>A
NM_004820.3:c.122+70901G>A	NP_004811.1:n.122+70901G>A
NM_001324112.1:c.122+70901G>A	NP_001311041.1:n.122+70901G>A
NM_004820.4:c.122+70901G>A	NP_004811.1:n.122+70901G>A
NM_004820.5:c.122+70901G>A MANE Select	NP_004811.1:n.122+70901G>A
NM_001324112.2:c.122+70901G>A	NP_001311041.1:n.122+70901G>A