Canonical Allele Identifier: CA179461

Gene: TTR

Linked Data

• ClinVar Variation Id: 13427
• ClinVar RCV Id: RCV000014369 ; RCV000152541 ; RCV000621211 ; RCV000770556 ; RCV000852746 ; RCV000857889 ; RCV001173306 ; RCV001256816
• dbSNP Id: rs121918074
• ExAC: 18:29175210 C / A
• gnomAD v2: 18-29175210-C-A
• gnomAD v3: 18-31595247-C-A
• gnomAD v4: 18-31595247-C-A
• MyVariant Identifiers: chr18:g.29175210C>A (hg19) ; chr18:g.31595247C>A (hg38)
• PubMed: PMID:1355416 ; PMID:1850190 ; PMID:1997217 ; PMID:2174830 ; PMID:2590199 ; PMID:7923855 ; PMID:8102146 ; PMID:9090525 ; PMID:14640030 ; PMID:15185492 ; PMID:19428025 ; PMID:22332999 ; PMID:24955979

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31595247C>A , CM000680.2:g.31595247C>A	GRCh38
NC_000018.9:g.29175210C>A , CM000680.1:g.29175210C>A	GRCh37
NC_000018.8:g.27429208C>A	NCBI36
NG_009490.1:g.8481C>A , LRG_416:g.8481C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.328C>A MANE Select	ENSP00000237014.4:p.His110Asn
ENST00000610404.5:c.232C>A	ENSP00000477599.2:p.His78Asn
ENST00000649620.1:c.328C>A	ENSP00000497927.1:p.His110Asn
ENST00000237014.7:c.328C>A	ENSP00000237014.3:p.His110Asn
ENST00000541025.2:n.354C>A
ENST00000610404.4:c.328C>A	ENSP00000477599.1:p.His110Asn
ENST00000613781.1:c.328C>A	ENSP00000479174.1:p.His110Asn
NM_000371.3:c.328C>A , LRG_416t1:c.328C>A	NP_000362.1:p.His110Asn
NM_000371.4:c.328C>A MANE Select	NP_000362.1:p.His110Asn