Canonical Allele Identifier: CA358135287

Gene: FAT4

Linked Data

• dbSNP Id: rs1259106476
• gnomAD v2: 4-126355502-C-T
• gnomAD v4: 4-125434347-C-T
• MyVariant Identifiers: chr4:g.126355502C>T (hg19) ; chr4:g.125434347C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125434347C>T , CM000666.2:g.125434347C>T	GRCh38
NC_000004.11:g.126355502C>T , CM000666.1:g.126355502C>T	GRCh37
NC_000004.10:g.126574952C>T	NCBI36
NG_033865.1:g.122936C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.7121C>T MANE Select	ENSP00000377862.4:p.Pro2374Leu
ENST00000674496.2:c.1892C>T	ENSP00000501473.2:p.Pro631Leu
ENST00000335110.5:c.2015C>T	ENSP00000335169.5:p.Pro672Leu
ENST00000394329.7:c.7121C>T	ENSP00000377862.3:p.Pro2374Leu
NM_001291285.1:c.7121C>T	NP_001278214.1:p.Pro2374Leu
NM_001291303.1:c.7121C>T	NP_001278232.1:p.Pro2374Leu
NM_024582.4:c.7121C>T	NP_078858.4:p.Pro2374Leu
XM_011532236.1:c.7121C>T	XP_011530538.1:p.Pro2374Leu
XM_011532237.1:c.1892C>T	XP_011530539.1:p.Pro631Leu
XM_011532236.2:c.7121C>T	XP_011530538.1:p.Pro2374Leu
XM_011532237.2:c.1892C>T	XP_011530539.1:p.Pro631Leu
NM_001291285.2:c.7121C>T	NP_001278214.1:p.Pro2374Leu
NM_001291303.3:c.7121C>T MANE Select	NP_001278232.1:p.Pro2374Leu
NM_024582.5:c.7121C>T	NP_078858.4:p.Pro2374Leu
NM_001291285.3:c.7121C>T	NP_001278214.1:p.Pro2374Leu
NM_024582.6:c.7121C>T	NP_078858.4:p.Pro2374Leu