Canonical Allele Identifier: CA2641409115
Gene: TTR HGNC NCBI

Linked Data

gnomAD v4: 18-31593043-C-G
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Genomic Alleles

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

Transcript Alleles

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