Canonical Allele Identifier: CA11742101

Gene: FAT1

Linked Data

• ClinVar Variation Id: 1272616
• ClinVar RCV Id: RCV001686772
• dbSNP Id: rs2306987
• gnomAD v2: 4-187516655-T-A
• gnomAD v3: 4-186595501-T-A
• gnomAD v4: 4-186595501-T-A
• MyVariant Identifiers: chr4:g.187516655T>A (hg19) ; chr4:g.186595501T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186595501T>A , CM000666.2:g.186595501T>A	GRCh38
NC_000004.11:g.187516655T>A , CM000666.1:g.187516655T>A	GRCh37
NC_000004.10:g.187753649T>A	NCBI36
NG_046994.1:g.136415A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000441802.7:c.13138+188A>T MANE Select	ENSP00000406229.2:n.13138+188A>T
ENST00000441802.6:c.13138+188A>T	ENSP00000406229.2:n.13138+188A>T
ENST00000500085.2:n.830+188A>T
ENST00000507105.1:c.440+188A>T
ENST00000509537.1:c.9+188A>T	ENSP00000421003.1:n.9+188A>T
ENST00000509927.1:c.112+188A>T	ENSP00000420869.1:n.112+188A>T
ENST00000512772.5:c.440+188A>T
ENST00000614102.4:c.13144+188A>T	ENSP00000479573.1:n.13144+188A>T
NM_005245.3:c.13138+188A>T	NP_005236.2:n.13138+188A>T
XM_005262834.2:c.13138+188A>T	XP_005262891.1:n.13138+188A>T
XM_005262835.1:c.13138+188A>T	XP_005262892.1:n.13138+188A>T
XM_006714139.2:c.13138+188A>T	XP_006714202.1:n.13138+188A>T
XM_005262834.3:c.13138+188A>T	XP_005262891.1:n.13138+188A>T
XM_005262835.2:c.13138+188A>T	XP_005262892.1:n.13138+188A>T
XM_006714139.3:c.13138+188A>T	XP_006714202.1:n.13138+188A>T
NM_005245.4:c.13138+188A>T MANE Select	NP_005236.2:n.13138+188A>T