Canonical Allele Identifier: CA309376207

Gene: FTL

Linked Data

• dbSNP Id: rs930261882
• gnomAD v4: 19-48966099-C-T
• MyVariant Identifiers: chr19:g.48966099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48966099C>T , CM000681.2:g.48966099C>T	GRCh38
NC_000019.9:g.49469356C>T , CM000681.1:g.49469356C>T	GRCh37
NC_000019.8:g.54161168C>T	NCBI36
NG_008152.1:g.5791C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331825.11:c.250-182C>T MANE Select	ENSP00000366525.2:n.250-182C>T
ENST00000331825.10:c.250-182C>T	ENSP00000366525.2:n.250-182C>T
ENST00000622577.2:c.250-182C>T	ENSP00000484043.1:n.250-182C>T
NM_000146.3:c.250-182C>T	NP_000137.2:n.250-182C>T
XM_024451447.1:c.760-182C>T	XP_024307215.1:n.760-182C>T
NM_000146.4:c.250-182C>T MANE Select	NP_000137.2:n.250-182C>T