Canonical Allele Identifier: CA858144949

Gene: FKTN

Linked Data

• dbSNP Id: rs1198993059
• gnomAD v3: 9-105640349-G-A
• gnomAD v4: 9-105640349-G-A
• MyVariant Identifiers: chr9:g.108402630G>A (hg19) ; chr9:g.105640349G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105640349G>A , CM000671.2:g.105640349G>A	GRCh38
NC_000009.11:g.108402630G>A , CM000671.1:g.108402630G>A	GRCh37
NC_000009.10:g.107442451G>A	NCBI36
NG_008754.1:g.87220G>A , LRG_434:g.87220G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357998.10:c.*5085G>A MANE Select	ENSP00000350687.6:n.*5085G>A
ENST00000642952.1:c.1859G>A	ENSP00000493886.1:n.1859G>A
ENST00000644273.1:c.802G>A
ENST00000674633.1:c.1271-4355G>A	ENSP00000502164.1:n.1271-4355G>A
ENST00000675695.1:c.*5452G>A	ENSP00000502460.1:n.*5452G>A
ENST00000676310.1:c.1270+5201G>A	ENSP00000501585.1:n.1270+5201G>A
ENST00000223528.6:c.*5085G>A	ENSP00000223528.2:n.*5085G>A
ENST00000357998.9:c.*226G>A	ENSP00000350687.5:n.*226G>A
ENST00000602526.1:c.*6509G>A	ENSP00000473347.1:n.*6509G>A
NM_001079802.1:c.*5085G>A , LRG_434t1:c.*5085G>A	NP_001073270.1:n.*5085G>A
NM_001198963.1:c.*226G>A	NP_001185892.1:n.*226G>A
NM_006731.2:c.*5085G>A , LRG_434t2:c.*5085G>A	NP_006722.2:n.*5085G>A
XM_006717014.2:c.*5263G>A	XP_006717077.1:n.*5263G>A
NM_001351496.1:c.*5085G>A	NP_001338425.1:n.*5085G>A
NM_001351497.1:c.*5085G>A	NP_001338426.1:n.*5085G>A
NM_001351498.1:c.*5263G>A	NP_001338427.1:n.*5263G>A
NM_001351499.1:c.*5085G>A	NP_001338428.1:n.*5085G>A
NM_001351500.1:c.*5085G>A	NP_001338429.1:n.*5085G>A
NM_001351501.1:c.*5085G>A	NP_001338430.1:n.*5085G>A
NM_001351502.1:c.*5085G>A	NP_001338431.1:n.*5085G>A
NR_147213.1:n.6595G>A
NR_147214.1:n.6767G>A
XM_011518391.2:c.*5263G>A	XP_011516693.1:n.*5263G>A
XM_017014464.1:c.1271-5116G>A	XP_016869953.1:n.1271-5116G>A
XM_017014465.1:c.1271-5116G>A	XP_016869954.1:n.1271-5116G>A
XM_017014467.1:c.*5085G>A	XP_016869956.1:n.*5085G>A
XM_017014468.1:c.*5085G>A	XP_016869957.1:n.*5085G>A
XM_017014469.1:c.1271-5116G>A	XP_016869958.1:n.1271-5116G>A
XM_017014470.1:c.1271-4355G>A	XP_016869959.1:n.1271-4355G>A
XR_001746242.2:n.1838-5116G>A
XR_001746244.2:n.1666-5116G>A
XR_001746245.1:n.6857G>A
XR_001746248.1:n.7950G>A
XR_002956770.1:n.6713G>A
NM_001079802.2:c.*5085G>A MANE Select	NP_001073270.1:n.*5085G>A
NM_001198963.2:c.*226G>A	NP_001185892.1:n.*226G>A
NM_001351496.2:c.*5085G>A	NP_001338425.1:n.*5085G>A
NM_001351497.2:c.*5085G>A	NP_001338426.1:n.*5085G>A
NM_001351498.2:c.*5263G>A	NP_001338427.1:n.*5263G>A
NM_001351499.2:c.*5085G>A	NP_001338428.1:n.*5085G>A
NM_001351500.2:c.*5085G>A	NP_001338429.1:n.*5085G>A
NM_001351501.2:c.*5085G>A	NP_001338430.1:n.*5085G>A
NM_001351502.2:c.*5085G>A	NP_001338431.1:n.*5085G>A
NR_147213.2:n.6594G>A
NR_147214.2:n.6766G>A