Canonical Allele Identifier: CA179054397

Gene: CYP7B1

Linked Data

• dbSNP Id: rs571631278
• gnomAD v2: 8-65640165-A-G
• gnomAD v3: 8-64727608-A-G
• gnomAD v4: 8-64727608-A-G
• MyVariant Identifiers: chr8:g.65640165A>G (hg19) ; chr8:g.64727608A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64727608A>G , CM000670.2:g.64727608A>G	GRCh38
NC_000008.10:g.65640165A>G , CM000670.1:g.65640165A>G	GRCh37
NC_000008.9:g.65802719A>G	NCBI36
NG_008338.1:g.76184T>C
NG_008338.2:g.76184T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310193.4:c.122+70858T>C MANE Select	ENSP00000310721.3:n.122+70858T>C
ENST00000310193.3:c.122+70858T>C	ENSP00000310721.3:n.122+70858T>C
NM_004820.3:c.122+70858T>C	NP_004811.1:n.122+70858T>C
NM_001324112.1:c.122+70858T>C	NP_001311041.1:n.122+70858T>C
NM_004820.4:c.122+70858T>C	NP_004811.1:n.122+70858T>C
NM_004820.5:c.122+70858T>C MANE Select	NP_004811.1:n.122+70858T>C
NM_001324112.2:c.122+70858T>C	NP_001311041.1:n.122+70858T>C