Canonical Allele Identifier: CA778416404
Gene: TTR HGNC NCBI

Linked Data

dbSNP Id: rs368289507
gnomAD v4: 18-31595281-G-A
MyVariant Identifiers: chr18:g.29175244G>A (hg19) chr18:g.31595281G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31595281G>A , CM000680.2:g.31595281G>A GRCh38
NC_000018.9:g.29175244G>A , CM000680.1:g.29175244G>A GRCh37
NC_000018.8:g.27429242G>A NCBI36
NG_009490.1:g.8515G>A , LRG_416:g.8515G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.336+26G>A MANE Select ENSP00000237014.4:n.336+26G>A
ENST00000610404.5:c.240+26G>A ENSP00000477599.2:n.240+26G>A
ENST00000649620.1:c.336+26G>A ENSP00000497927.1:n.336+26G>A
ENST00000237014.7:c.336+26G>A ENSP00000237014.3:n.336+26G>A
ENST00000541025.2:n.388G>A
ENST00000610404.4:c.357+5G>A ENSP00000477599.1:n.357+5G>A
ENST00000613781.1:c.336+26G>A ENSP00000479174.1:n.336+26G>A
NM_000371.3:c.336+26G>A , LRG_416t1:c.336+26G>A NP_000362.1:n.336+26G>A
NM_000371.4:c.336+26G>A MANE Select NP_000362.1:n.336+26G>A
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