Canonical Allele Identifier: CA8928437
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 2838613
ClinVar RCV Id: RCV003628338
dbSNP Id: rs775510503
ExAC: 18:29175079 A / G
gnomAD v2: 18-29175079-A-G
gnomAD v3: 18-31595116-A-G
gnomAD v4: 18-31595116-A-G
MyVariant Identifiers: chr18:g.29175079A>G (hg19) chr18:g.31595116A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31595116A>G , CM000680.2:g.31595116A>G GRCh38
NC_000018.9:g.29175079A>G , CM000680.1:g.29175079A>G GRCh37
NC_000018.8:g.27429077A>G NCBI36
NG_009490.1:g.8350A>G , LRG_416:g.8350A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.201-4A>G MANE Select ENSP00000237014.4:n.201-4A>G
ENST00000610404.5:c.105-4A>G ENSP00000477599.2:n.105-4A>G
ENST00000649620.1:c.201-4A>G ENSP00000497927.1:n.201-4A>G
ENST00000237014.7:c.201-4A>G ENSP00000237014.3:n.201-4A>G
ENST00000541025.2:n.227-4A>G
ENST00000610404.4:c.201-4A>G ENSP00000477599.1:n.201-4A>G
ENST00000613781.1:c.201-4A>G ENSP00000479174.1:n.201-4A>G
NM_000371.3:c.201-4A>G , LRG_416t1:c.201-4A>G NP_000362.1:n.201-4A>G
NM_000371.4:c.201-4A>G MANE Select NP_000362.1:n.201-4A>G
Search 100 bp 5'
Search 100 bp 3'