Canonical Allele Identifier: CA178383085

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 489179
• ClinVar RCV Id: RCV000578856 ; RCV001391411 ; RCV003767256
• dbSNP Id: rs769676029
• gnomAD v2: 8-65509366-G-A
• gnomAD v4: 8-64596809-G-A
• MyVariant Identifiers: chr8:g.65509366G>A (hg19) ; chr8:g.64596809G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64596809G>A , CM000670.2:g.64596809G>A	GRCh38
NC_000008.10:g.65509366G>A , CM000670.1:g.65509366G>A	GRCh37
NC_000008.9:g.65671920G>A	NCBI36
NG_008338.1:g.206983C>T
NG_008338.2:g.206983C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.1354C>T MANE Select	ENSP00000310721.3:p.Arg452Ter
ENST00000310193.3:c.1354C>T	ENSP00000310721.3:p.Arg452Ter
ENST00000523954.1:n.508-6965C>T
NM_004820.3:c.1354C>T	NP_004811.1:p.Arg452Ter
NM_001324112.1:c.1234-6965C>T	NP_001311041.1:n.1234-6965C>T
NM_004820.4:c.1354C>T	NP_004811.1:p.Arg452Ter
XM_017014002.1:c.1420C>T	XP_016869491.1:p.Arg474Ter
NM_004820.5:c.1354C>T MANE Select	NP_004811.1:p.Arg452Ter
NM_001324112.2:c.1234-6965C>T	NP_001311041.1:n.1234-6965C>T