Canonical Allele Identifier: CA104876995

Gene: FAT4

Linked Data

• ClinVar Variation Id: 1461368
• ClinVar RCV Id: RCV001965816
• dbSNP Id: rs1025769012
• gnomAD v3: 4-125491652-G-T
• gnomAD v4: 4-125491652-G-T
• MyVariant Identifiers: chr4:g.126412807G>T (hg19) ; chr4:g.125491652G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125491652G>T , CM000666.2:g.125491652G>T	GRCh38
NC_000004.11:g.126412807G>T , CM000666.1:g.126412807G>T	GRCh37
NC_000004.10:g.126632257G>T	NCBI36
NG_033865.1:g.180241G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.14836G>T MANE Select	ENSP00000377862.4:p.Val4946Leu
ENST00000674496.2:c.9607G>T	ENSP00000501473.2:p.Val3203Leu
ENST00000335110.5:c.9553G>T	ENSP00000335169.5:p.Val3185Leu
ENST00000394329.7:c.14830G>T	ENSP00000377862.3:p.Val4944Leu
NM_001291285.1:c.14833G>T	NP_001278214.1:p.Val4945Leu
NM_001291303.1:c.14836G>T	NP_001278232.1:p.Val4946Leu
NM_024582.4:c.14830G>T	NP_078858.4:p.Val4944Leu
XM_011532236.1:c.14836G>T	XP_011530538.1:p.Val4946Leu
XM_011532237.1:c.9607G>T	XP_011530539.1:p.Val3203Leu
XM_011532236.2:c.14836G>T	XP_011530538.1:p.Val4946Leu
XM_011532237.2:c.9607G>T	XP_011530539.1:p.Val3203Leu
NM_001291285.2:c.14833G>T	NP_001278214.1:p.Val4945Leu
NM_001291303.3:c.14836G>T MANE Select	NP_001278232.1:p.Val4946Leu
NM_024582.5:c.14830G>T	NP_078858.4:p.Val4944Leu
NM_001291285.3:c.14833G>T	NP_001278214.1:p.Val4945Leu
NM_024582.6:c.14830G>T	NP_078858.4:p.Val4944Leu