Canonical Allele Identifier: CA297523

Gene: TTR

Linked Data

• ClinVar Variation Id: 181695
• ClinVar RCV Id: RCV000647355 ; RCV000725937 ; RCV001731489 ; RCV001173300 ; RCV002433710 ; RCV002478482
• dbSNP Id: rs730881164
• ExAC: 18:29175162 G / C
• gnomAD v2: 18-29175162-G-C
• gnomAD v3: 18-31595199-G-C
• gnomAD v4: 18-31595199-G-C
• MyVariant Identifiers: chr18:g.29175162G>C (hg19) ; chr18:g.31595199G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31595199G>C , CM000680.2:g.31595199G>C	GRCh38
NC_000018.9:g.29175162G>C , CM000680.1:g.29175162G>C	GRCh37
NC_000018.8:g.27429160G>C	NCBI36
NG_009490.1:g.8433G>C , LRG_416:g.8433G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.280G>C MANE Select	ENSP00000237014.4:p.Asp94His
ENST00000610404.5:c.184G>C	ENSP00000477599.2:p.Asp62His
ENST00000649620.1:c.280G>C	ENSP00000497927.1:p.Asp94His
ENST00000237014.7:c.280G>C	ENSP00000237014.3:p.Asp94His
ENST00000541025.2:n.306G>C
ENST00000610404.4:c.280G>C	ENSP00000477599.1:p.Asp94His
ENST00000613781.1:c.280G>C	ENSP00000479174.1:p.Asp94His
NM_000371.3:c.280G>C , LRG_416t1:c.280G>C	NP_000362.1:p.Asp94His
NM_000371.4:c.280G>C MANE Select	NP_000362.1:p.Asp94His