Canonical Allele Identifier: CA358978269

Gene: FAT1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186628152A>G , CM000666.2:g.186628152A>G	GRCh38
NC_000004.11:g.187549306A>G , CM000666.1:g.187549306A>G	GRCh37
NC_000004.10:g.187786300A>G	NCBI36
NG_046994.1:g.103764T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441802.7:c.4810+2T>C MANE Select	ENSP00000406229.2:n.4810+2T>C
ENST00000441802.6:c.4810+2T>C	ENSP00000406229.2:n.4810+2T>C
ENST00000614102.4:c.4809T>C	ENSP00000479573.1:p.Gly1603=
NM_005245.3:c.4810+2T>C	NP_005236.2:n.4810+2T>C
XM_005262834.2:c.4810+2T>C	XP_005262891.1:n.4810+2T>C
XM_005262835.1:c.4810+2T>C	XP_005262892.1:n.4810+2T>C
XM_006714139.2:c.4810+2T>C	XP_006714202.1:n.4810+2T>C
XM_005262834.3:c.4810+2T>C	XP_005262891.1:n.4810+2T>C
XM_005262835.2:c.4810+2T>C	XP_005262892.1:n.4810+2T>C
XM_006714139.3:c.4810+2T>C	XP_006714202.1:n.4810+2T>C
NM_005245.4:c.4810+2T>C MANE Select	NP_005236.2:n.4810+2T>C