Canonical Allele Identifier: CA633607486
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs1345996792
gnomAD v2: 19-49469445-T-C
gnomAD v3: 19-48966188-T-C
gnomAD v4: 19-48966188-T-C
MyVariant Identifiers: chr19:g.49469445T>C (hg19) chr19:g.48966188T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966188T>C , CM000681.2:g.48966188T>C GRCh38
NC_000019.9:g.49469445T>C , CM000681.1:g.49469445T>C GRCh37
NC_000019.8:g.54161257T>C NCBI36
NG_008152.1:g.5880T>C
NG_012923.1:g.32166A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.250-93T>C MANE Select ENSP00000366525.2:n.250-93T>C
ENST00000331825.10:c.250-93T>C ENSP00000366525.2:n.250-93T>C
ENST00000622577.2:c.250-93T>C ENSP00000484043.1:n.250-93T>C
NM_000146.3:c.250-93T>C NP_000137.2:n.250-93T>C
XM_024451447.1:c.760-93T>C XP_024307215.1:n.760-93T>C
NM_000146.4:c.250-93T>C MANE Select NP_000137.2:n.250-93T>C
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