Canonical Allele Identifier: CA358959810

Gene: FAT1

Linked Data

• dbSNP Id: rs2126487123
• MyVariant Identifiers: chr4:g.187538861C>A (hg19) ; chr4:g.186617707C>A (hg38)
• MutSpliceDB: CA358959810

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186617707C>A , CM000666.2:g.186617707C>A	GRCh38
NC_000004.11:g.187538861C>A , CM000666.1:g.187538861C>A	GRCh37
NC_000004.10:g.187775855C>A	NCBI36
NG_046994.1:g.114209G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441802.7:c.8878+1G>T MANE Select	ENSP00000406229.2:n.8878+1G>T
ENST00000441802.6:c.8878+1G>T	ENSP00000406229.2:n.8878+1G>T
ENST00000614102.4:c.8884+1G>T	ENSP00000479573.1:n.8884+1G>T
NM_005245.3:c.8878+1G>T	NP_005236.2:n.8878+1G>T
XM_005262834.2:c.8878+1G>T	XP_005262891.1:n.8878+1G>T
XM_005262835.1:c.8878+1G>T	XP_005262892.1:n.8878+1G>T
XM_006714139.2:c.8878+1G>T	XP_006714202.1:n.8878+1G>T
XM_005262834.3:c.8878+1G>T	XP_005262891.1:n.8878+1G>T
XM_005262835.2:c.8878+1G>T	XP_005262892.1:n.8878+1G>T
XM_006714139.3:c.8878+1G>T	XP_006714202.1:n.8878+1G>T
NM_005245.4:c.8878+1G>T MANE Select	NP_005236.2:n.8878+1G>T