Canonical Allele Identifier: CA402156884
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 631798
ClinVar RCV Id: RCV000778529
dbSNP Id: rs1567945731
gnomAD v4: 18-31593027-G-A
MyVariant Identifiers: chr18:g.29172990G>A (hg19) chr18:g.31593027G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31593027G>A , CM000680.2:g.31593027G>A GRCh38
NC_000018.9:g.29172990G>A , CM000680.1:g.29172990G>A GRCh37
NC_000018.8:g.27426988G>A NCBI36
NG_009490.1:g.6261G>A , LRG_416:g.6261G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.200+1G>A MANE Select ENSP00000237014.4:n.200+1G>A
ENST00000610404.5:c.104+1G>A ENSP00000477599.2:n.104+1G>A
ENST00000649620.1:c.200+1G>A ENSP00000497927.1:n.200+1G>A
ENST00000237014.7:c.200+1G>A ENSP00000237014.3:n.200+1G>A
ENST00000432547.7:n.227G>A
ENST00000541025.2:n.226+1G>A
ENST00000610404.4:c.200+1G>A ENSP00000477599.1:n.200+1G>A
ENST00000613781.1:c.200+1G>A ENSP00000479174.1:n.200+1G>A
NM_000371.3:c.200+1G>A , LRG_416t1:c.200+1G>A NP_000362.1:n.200+1G>A
NM_000371.4:c.200+1G>A MANE Select NP_000362.1:n.200+1G>A
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