Canonical Allele Identifier: CA371334312

Gene: CYP7B1

Linked Data

• dbSNP Id: rs1433466852
• gnomAD v2: 8-65517393-A-G
• gnomAD v3: 8-64604836-A-G
• gnomAD v4: 8-64604836-A-G
• MyVariant Identifiers: chr8:g.65517393A>G (hg19) ; chr8:g.64604836A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64604836A>G , CM000670.2:g.64604836A>G	GRCh38
NC_000008.10:g.65517393A>G , CM000670.1:g.65517393A>G	GRCh37
NC_000008.9:g.65679947A>G	NCBI36
NG_008338.1:g.198956T>C
NG_008338.2:g.198956T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310193.4:c.1079T>C MANE Select	ENSP00000310721.3:p.Leu360Ser
ENST00000310193.3:c.1079T>C	ENSP00000310721.3:p.Leu360Ser
ENST00000523954.1:n.353T>C
NM_004820.3:c.1079T>C	NP_004811.1:p.Leu360Ser
NM_001324112.1:c.1079T>C	NP_001311041.1:p.Leu360Ser
NM_004820.4:c.1079T>C	NP_004811.1:p.Leu360Ser
XM_017014002.1:c.1145T>C	XP_016869491.1:p.Leu382Ser
NM_004820.5:c.1079T>C MANE Select	NP_004811.1:p.Leu360Ser
NM_001324112.2:c.1079T>C	NP_001311041.1:p.Leu360Ser