Canonical Allele Identifier: CA508078112
Gene: FTL HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.49469642T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966385T>C , CM000681.2:g.48966385T>C GRCh38
NC_000019.9:g.49469642T>C , CM000681.1:g.49469642T>C GRCh37
NC_000019.8:g.54161454T>C NCBI36
NG_008152.1:g.6077T>C
NG_012923.1:g.31969A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.354T>C MANE Select ENSP00000366525.2:p.Gly118=
ENST00000331825.10:c.354T>C ENSP00000366525.2:p.Gly118=
ENST00000622577.2:c.354T>C ENSP00000484043.1:p.Gly118=
NM_000146.3:c.354T>C NP_000137.2:p.Gly118=
XM_024451447.1:c.864T>C XP_024307215.1:p.Gly288=
NM_000146.4:c.354T>C MANE Select NP_000137.2:p.Gly118=