Canonical Allele Identifier: CA3164877

Gene: FAT1

Linked Data

• ClinVar Variation Id: 1261827
• ClinVar RCV Id: RCV001674405
• dbSNP Id: rs2306990
• ExAC: 4:187518976 C / T
• gnomAD v2: 4-187518976-C-T
• gnomAD v3: 4-186597822-C-T
• gnomAD v4: 4-186597822-C-T
• MyVariant Identifiers: chr4:g.187518976C>T (hg19) ; chr4:g.186597822C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186597822C>T , CM000666.2:g.186597822C>T	GRCh38
NC_000004.11:g.187518976C>T , CM000666.1:g.187518976C>T	GRCh37
NC_000004.10:g.187755970C>T	NCBI36
NG_046994.1:g.134094G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000441802.7:c.12258-30G>A MANE Select	ENSP00000406229.2:n.12258-30G>A
ENST00000441802.6:c.12258-30G>A	ENSP00000406229.2:n.12258-30G>A
ENST00000507105.1:c.54-30G>A
ENST00000507662.1:n.157-30G>A
ENST00000512347.1:n.450-30G>A
ENST00000614102.4:c.12264-30G>A	ENSP00000479573.1:n.12264-30G>A
NM_005245.3:c.12258-30G>A	NP_005236.2:n.12258-30G>A
XM_005262834.2:c.12258-30G>A	XP_005262891.1:n.12258-30G>A
XM_005262835.1:c.12258-30G>A	XP_005262892.1:n.12258-30G>A
XM_006714139.2:c.12258-30G>A	XP_006714202.1:n.12258-30G>A
XM_005262834.3:c.12258-30G>A	XP_005262891.1:n.12258-30G>A
XM_005262835.2:c.12258-30G>A	XP_005262892.1:n.12258-30G>A
XM_006714139.3:c.12258-30G>A	XP_006714202.1:n.12258-30G>A
NM_005245.4:c.12258-30G>A MANE Select	NP_005236.2:n.12258-30G>A