Canonical Allele Identifier: CA104860557

Gene: FAT4

Linked Data

• dbSNP Id: rs989721622
• gnomAD v4: 4-125468897-T-G
• MyVariant Identifiers: chr4:g.126390052T>G (hg19) ; chr4:g.125468897T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125468897T>G , CM000666.2:g.125468897T>G	GRCh38
NC_000004.11:g.126390052T>G , CM000666.1:g.126390052T>G	GRCh37
NC_000004.10:g.126609502T>G	NCBI36
NG_033865.1:g.157486T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.12213+78T>G MANE Select	ENSP00000377862.4:n.12213+78T>G
ENST00000674496.2:c.6984+78T>G	ENSP00000501473.2:n.6984+78T>G
ENST00000335110.5:c.6996+78T>G	ENSP00000335169.5:n.6996+78T>G
ENST00000394329.7:c.12207+78T>G	ENSP00000377862.3:n.12207+78T>G
NM_001291285.1:c.12213+78T>G	NP_001278214.1:n.12213+78T>G
NM_001291303.1:c.12213+78T>G	NP_001278232.1:n.12213+78T>G
NM_024582.4:c.12207+78T>G	NP_078858.4:n.12207+78T>G
XM_011532236.1:c.12213+78T>G	XP_011530538.1:n.12213+78T>G
XM_011532237.1:c.6984+78T>G	XP_011530539.1:n.6984+78T>G
XM_011532236.2:c.12213+78T>G	XP_011530538.1:n.12213+78T>G
XM_011532237.2:c.6984+78T>G	XP_011530539.1:n.6984+78T>G
NM_001291285.2:c.12213+78T>G	NP_001278214.1:n.12213+78T>G
NM_001291303.3:c.12213+78T>G MANE Select	NP_001278232.1:n.12213+78T>G
NM_024582.5:c.12207+78T>G	NP_078858.4:n.12207+78T>G
NM_001291285.3:c.12213+78T>G	NP_001278214.1:n.12213+78T>G
NM_024582.6:c.12207+78T>G	NP_078858.4:n.12207+78T>G