Canonical Allele Identifier: CA179054387

Gene: CYP7B1

Linked Data

• dbSNP Id: rs1039638119
• gnomAD v2: 8-65640086-G-A
• gnomAD v3: 8-64727529-G-A
• gnomAD v4: 8-64727529-G-A
• MyVariant Identifiers: chr8:g.65640086G>A (hg19) ; chr8:g.64727529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64727529G>A , CM000670.2:g.64727529G>A	GRCh38
NC_000008.10:g.65640086G>A , CM000670.1:g.65640086G>A	GRCh37
NC_000008.9:g.65802640G>A	NCBI36
NG_008338.1:g.76263C>T
NG_008338.2:g.76263C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310193.4:c.122+70937C>T MANE Select	ENSP00000310721.3:n.122+70937C>T
ENST00000310193.3:c.122+70937C>T	ENSP00000310721.3:n.122+70937C>T
NM_004820.3:c.122+70937C>T	NP_004811.1:n.122+70937C>T
NM_001324112.1:c.122+70937C>T	NP_001311041.1:n.122+70937C>T
NM_004820.4:c.122+70937C>T	NP_004811.1:n.122+70937C>T
NM_004820.5:c.122+70937C>T MANE Select	NP_004811.1:n.122+70937C>T
NM_001324112.2:c.122+70937C>T	NP_001311041.1:n.122+70937C>T