Canonical Allele Identifier: CA9562519
Gene: FTL HGNC NCBI

Linked Data

ClinVar Variation Id: 425194
ClinVar RCV Id: RCV000488041 RCV001130968 RCV001453279 RCV001130967
dbSNP Id: rs370216913
ExAC: 19:49469532 A / G
gnomAD v2: 19-49469532-A-G
gnomAD v3: 19-48966275-A-G
gnomAD v4: 19-48966275-A-G
MyVariant Identifiers: chr19:g.49469532A>G (hg19) chr19:g.48966275A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966275A>G , CM000681.2:g.48966275A>G GRCh38
NC_000019.9:g.49469532A>G , CM000681.1:g.49469532A>G GRCh37
NC_000019.8:g.54161344A>G NCBI36
NG_008152.1:g.5967A>G
NG_012923.1:g.32079T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.250-6A>G MANE Select ENSP00000366525.2:n.250-6A>G
ENST00000331825.10:c.250-6A>G ENSP00000366525.2:n.250-6A>G
ENST00000622577.2:c.250-6A>G ENSP00000484043.1:n.250-6A>G
NM_000146.3:c.250-6A>G NP_000137.2:n.250-6A>G
XM_024451447.1:c.760-6A>G XP_024307215.1:n.760-6A>G
NM_000146.4:c.250-6A>G MANE Select NP_000137.2:n.250-6A>G
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