Canonical Allele Identifier: CA349540

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 219384
• ClinVar RCV Id: RCV000205382 ; RCV000512932 ; RCV001163749 ; RCV003955222
• dbSNP Id: rs537303950
• ExAC: 8:65711086 G / A
• gnomAD v2: 8-65711086-G-A
• gnomAD v3: 8-64798529-G-A
• gnomAD v4: 8-64798529-G-A
• COSMIC: COSM3663833
• MyVariant Identifiers: chr8:g.65711086G>A (hg19) ; chr8:g.64798529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64798529G>A , CM000670.2:g.64798529G>A	GRCh38
NC_000008.10:g.65711086G>A , CM000670.1:g.65711086G>A	GRCh37
NC_000008.9:g.65873640G>A	NCBI36
NG_008338.1:g.5263C>T
NG_008338.2:g.5263C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.59C>T MANE Select	ENSP00000310721.3:p.Pro20Leu
ENST00000310193.3:c.59C>T	ENSP00000310721.3:p.Pro20Leu
NM_004820.3:c.59C>T	NP_004811.1:p.Pro20Leu
NM_001324112.1:c.59C>T	NP_001311041.1:p.Pro20Leu
NM_004820.4:c.59C>T	NP_004811.1:p.Pro20Leu
NM_004820.5:c.59C>T MANE Select	NP_004811.1:p.Pro20Leu
NM_001324112.2:c.59C>T	NP_001311041.1:p.Pro20Leu