Canonical Allele Identifier: CA8928422

Gene: TTR

Linked Data

• ClinVar Variation Id: 1574962
• ClinVar RCV Id: RCV002083209
• dbSNP Id: rs767333203
• ExAC: 18:29173006 C / A
• gnomAD v2: 18-29173006-C-A
• gnomAD v4: 18-31593043-C-A
• MyVariant Identifiers: chr18:g.29173006C>A (hg19) ; chr18:g.31593043C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31593043C>A , CM000680.2:g.31593043C>A	GRCh38
NC_000018.9:g.29173006C>A , CM000680.1:g.29173006C>A	GRCh37
NC_000018.8:g.27427004C>A	NCBI36
NG_009490.1:g.6277C>A , LRG_416:g.6277C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.200+17C>A MANE Select	ENSP00000237014.4:n.200+17C>A
ENST00000610404.5:c.104+17C>A	ENSP00000477599.2:n.104+17C>A
ENST00000649620.1:c.200+17C>A	ENSP00000497927.1:n.200+17C>A
ENST00000237014.7:c.200+17C>A	ENSP00000237014.3:n.200+17C>A
ENST00000432547.7:n.243C>A
ENST00000541025.2:n.226+17C>A
ENST00000610404.4:c.200+17C>A	ENSP00000477599.1:n.200+17C>A
ENST00000613781.1:c.200+17C>A	ENSP00000479174.1:n.200+17C>A
NM_000371.3:c.200+17C>A , LRG_416t1:c.200+17C>A	NP_000362.1:n.200+17C>A
NM_000371.4:c.200+17C>A MANE Select	NP_000362.1:n.200+17C>A