Canonical Allele Identifier: CA16042548

Gene: FAT4

Linked Data

• ClinVar Variation Id: 373339
• ClinVar RCV Id: RCV000414579 ; RCV001865294
• dbSNP Id: rs991371776
• gnomAD v2: 4-126238729-C-T
• gnomAD v3: 4-125317574-C-T
• gnomAD v4: 4-125317574-C-T
• MyVariant Identifiers: chr4:g.126238729C>T (hg19) ; chr4:g.125317574C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125317574C>T , CM000666.2:g.125317574C>T	GRCh38
NC_000004.11:g.126238729C>T , CM000666.1:g.126238729C>T	GRCh37
NC_000004.10:g.126458179C>T	NCBI36
NG_033865.1:g.6163C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.1163C>T MANE Select	ENSP00000377862.4:p.Pro388Leu
ENST00000674496.2:c.-55+1597C>T	ENSP00000501473.2:n.-55+1597C>T
ENST00000394329.7:c.1163C>T	ENSP00000377862.3:p.Pro388Leu
NM_001291285.1:c.1163C>T	NP_001278214.1:p.Pro388Leu
NM_001291303.1:c.1163C>T	NP_001278232.1:p.Pro388Leu
NM_024582.4:c.1163C>T	NP_078858.4:p.Pro388Leu
XM_011532236.1:c.1163C>T	XP_011530538.1:p.Pro388Leu
XM_011532237.1:c.-55+1597C>T	XP_011530539.1:n.-55+1597C>T
XM_011532236.2:c.1163C>T	XP_011530538.1:p.Pro388Leu
XM_011532237.2:c.-55+1597C>T	XP_011530539.1:n.-55+1597C>T
NM_001291285.2:c.1163C>T	NP_001278214.1:p.Pro388Leu
NM_001291303.3:c.1163C>T MANE Select	NP_001278232.1:p.Pro388Leu
NM_024582.5:c.1163C>T	NP_078858.4:p.Pro388Leu
NM_001291285.3:c.1163C>T	NP_001278214.1:p.Pro388Leu
NM_024582.6:c.1163C>T	NP_078858.4:p.Pro388Leu