Canonical Allele Identifier: CA358117539

Gene: FAT4

Linked Data

• ClinVar Variation Id: 2476371
• ClinVar RCV Id: RCV003186566
• MyVariant Identifiers: chr4:g.126238828A>C (hg19) ; chr4:g.125317673A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125317673A>C , CM000666.2:g.125317673A>C	GRCh38
NC_000004.11:g.126238828A>C , CM000666.1:g.126238828A>C	GRCh37
NC_000004.10:g.126458278A>C	NCBI36
NG_033865.1:g.6262A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.1262A>C MANE Select	ENSP00000377862.4:p.Lys421Thr
ENST00000674496.2:c.-55+1696A>C	ENSP00000501473.2:n.-55+1696A>C
ENST00000394329.7:c.1262A>C	ENSP00000377862.3:p.Lys421Thr
NM_001291285.1:c.1262A>C	NP_001278214.1:p.Lys421Thr
NM_001291303.1:c.1262A>C	NP_001278232.1:p.Lys421Thr
NM_024582.4:c.1262A>C	NP_078858.4:p.Lys421Thr
XM_011532236.1:c.1262A>C	XP_011530538.1:p.Lys421Thr
XM_011532237.1:c.-55+1696A>C	XP_011530539.1:n.-55+1696A>C
XM_011532236.2:c.1262A>C	XP_011530538.1:p.Lys421Thr
XM_011532237.2:c.-55+1696A>C	XP_011530539.1:n.-55+1696A>C
NM_001291285.2:c.1262A>C	NP_001278214.1:p.Lys421Thr
NM_001291303.3:c.1262A>C MANE Select	NP_001278232.1:p.Lys421Thr
NM_024582.5:c.1262A>C	NP_078858.4:p.Lys421Thr
NM_001291285.3:c.1262A>C	NP_001278214.1:p.Lys421Thr
NM_024582.6:c.1262A>C	NP_078858.4:p.Lys421Thr