Canonical Allele Identifier: CA996657984
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs2038450866
gnomAD v3: 19-48966125-C-G
gnomAD v4: 19-48966125-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966125C>G , CM000681.2:g.48966125C>G GRCh38
NC_000019.9:g.49469382C>G , CM000681.1:g.49469382C>G GRCh37
NC_000019.8:g.54161194C>G NCBI36
NG_008152.1:g.5817C>G
NG_012923.1:g.32229G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.250-156C>G MANE Select ENSP00000366525.2:n.250-156C>G
ENST00000331825.10:c.250-156C>G ENSP00000366525.2:n.250-156C>G
ENST00000622577.2:c.250-156C>G ENSP00000484043.1:n.250-156C>G
NM_000146.3:c.250-156C>G NP_000137.2:n.250-156C>G
XM_024451447.1:c.760-156C>G XP_024307215.1:n.760-156C>G
NM_000146.4:c.250-156C>G MANE Select NP_000137.2:n.250-156C>G
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