Canonical Allele Identifier: CA371335564

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 2124555
• ClinVar RCV Id: RCV003057221
• COSMIC: COSM3699130
• MyVariant Identifiers: chr8:g.65528577C>A (hg19) ; chr8:g.64616020C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64616020C>A , CM000670.2:g.64616020C>A	GRCh38
NC_000008.10:g.65528577C>A , CM000670.1:g.65528577C>A	GRCh37
NC_000008.9:g.65691131C>A	NCBI36
NG_008338.1:g.187772G>T
NG_008338.2:g.187772G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.521G>T MANE Select	ENSP00000310721.3:p.Ser174Ile
ENST00000310193.3:c.521G>T	ENSP00000310721.3:p.Ser174Ile
NM_004820.3:c.521G>T	NP_004811.1:p.Ser174Ile
NM_001324112.1:c.521G>T	NP_001311041.1:p.Ser174Ile
NM_004820.4:c.521G>T	NP_004811.1:p.Ser174Ile
XM_017014002.1:c.587G>T	XP_016869491.1:p.Ser196Ile
NM_004820.5:c.521G>T MANE Select	NP_004811.1:p.Ser174Ile
NM_001324112.2:c.521G>T	NP_001311041.1:p.Ser174Ile