Canonical Allele Identifier: CA3167163

Gene: FAT1

Linked Data

• ClinVar Variation Id: 444645
• ClinVar RCV Id: RCV000513027
• dbSNP Id: rs778221022
• ExAC: 4:187628146 T / C
• gnomAD v2: 4-187628146-T-C
• gnomAD v3: 4-186706992-T-C
• gnomAD v4: 4-186706992-T-C
• MyVariant Identifiers: chr4:g.187628146T>C (hg19) ; chr4:g.186706992T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186706992T>C , CM000666.2:g.186706992T>C	GRCh38
NC_000004.11:g.187628146T>C , CM000666.1:g.187628146T>C	GRCh37
NC_000004.10:g.187865140T>C	NCBI36
NG_046994.1:g.24924A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000441802.7:c.2836A>G MANE Select	ENSP00000406229.2:p.Ile946Val
ENST00000441802.6:c.2836A>G	ENSP00000406229.2:p.Ile946Val
ENST00000614102.4:c.2836A>G	ENSP00000479573.1:p.Ile946Val
NM_005245.3:c.2836A>G	NP_005236.2:p.Ile946Val
XM_005262834.2:c.2836A>G	XP_005262891.1:p.Ile946Val
XM_005262835.1:c.2836A>G	XP_005262892.1:p.Ile946Val
XM_006714139.2:c.2836A>G	XP_006714202.1:p.Ile946Val
XM_005262834.3:c.2836A>G	XP_005262891.1:p.Ile946Val
XM_005262835.2:c.2836A>G	XP_005262892.1:p.Ile946Val
XM_006714139.3:c.2836A>G	XP_006714202.1:p.Ile946Val
NM_005245.4:c.2836A>G MANE Select	NP_005236.2:p.Ile946Val