Canonical Allele Identifier: CA633607483
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs1464166920
gnomAD v2: 19-49469321-C-G
gnomAD v3: 19-48966064-C-G
gnomAD v4: 19-48966064-C-G
MyVariant Identifiers: chr19:g.49469321C>G (hg19) chr19:g.48966064C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966064C>G , CM000681.2:g.48966064C>G GRCh38
NC_000019.9:g.49469321C>G , CM000681.1:g.49469321C>G GRCh37
NC_000019.8:g.54161133C>G NCBI36
NG_008152.1:g.5756C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.249+148C>G MANE Select ENSP00000366525.2:n.249+148C>G
ENST00000331825.10:c.249+148C>G ENSP00000366525.2:n.249+148C>G
ENST00000622577.2:c.249+148C>G ENSP00000484043.1:n.249+148C>G
NM_000146.3:c.249+148C>G NP_000137.2:n.249+148C>G
XM_024451447.1:c.759+148C>G XP_024307215.1:n.759+148C>G
NM_000146.4:c.249+148C>G MANE Select NP_000137.2:n.249+148C>G
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