Canonical Allele Identifier: CA072793

Gene: FAT1

Linked Data

• ClinVar Variation Id: 221920
• ClinVar RCV Id: RCV000207426 ; RCV001853287
• dbSNP Id: rs200828005
• ExAC: 4:187549905 C / T
• gnomAD v2: 4-187549905-C-T
• gnomAD v3: 4-186628751-C-T
• gnomAD v4: 4-186628751-C-T
• MyVariant Identifiers: chr4:g.187549905C>T (hg19) ; chr4:g.186628751C>T (hg38)
• PubMed: PMID:26893459

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186628751C>T , CM000666.2:g.186628751C>T	GRCh38
NC_000004.11:g.187549905C>T , CM000666.1:g.187549905C>T	GRCh37
NC_000004.10:g.187786899C>T	NCBI36
NG_046994.1:g.103165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441802.7:c.4336G>A MANE Select	ENSP00000406229.2:p.Val1446Ile
ENST00000441802.6:c.4336G>A	ENSP00000406229.2:p.Val1446Ile
ENST00000614102.4:c.4336G>A	ENSP00000479573.1:p.Val1446Ile
NM_005245.3:c.4336G>A	NP_005236.2:p.Val1446Ile
XM_005262834.2:c.4336G>A	XP_005262891.1:p.Val1446Ile
XM_005262835.1:c.4336G>A	XP_005262892.1:p.Val1446Ile
XM_006714139.2:c.4336G>A	XP_006714202.1:p.Val1446Ile
XM_005262834.3:c.4336G>A	XP_005262891.1:p.Val1446Ile
XM_005262835.2:c.4336G>A	XP_005262892.1:p.Val1446Ile
XM_006714139.3:c.4336G>A	XP_006714202.1:p.Val1446Ile
NM_005245.4:c.4336G>A MANE Select	NP_005236.2:p.Val1446Ile