Canonical Allele Identifier: CA358976402

Gene: FAT1

Linked Data

• dbSNP Id: rs2126433052
• MyVariant Identifiers: chr4:g.187524925C>A (hg19) ; chr4:g.186603771C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186603771C>A , CM000666.2:g.186603771C>A	GRCh38
NC_000004.11:g.187524925C>A , CM000666.1:g.187524925C>A	GRCh37
NC_000004.10:g.187761919C>A	NCBI36
NG_046994.1:g.128145G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000441802.7:c.10755G>T MANE Select	ENSP00000406229.2:p.Gln3585His
ENST00000441802.6:c.10755G>T	ENSP00000406229.2:p.Gln3585His
ENST00000614102.4:c.10761G>T	ENSP00000479573.1:p.Gln3587His
NM_005245.3:c.10755G>T	NP_005236.2:p.Gln3585His
XM_005262834.2:c.10755G>T	XP_005262891.1:p.Gln3585His
XM_005262835.1:c.10755G>T	XP_005262892.1:p.Gln3585His
XM_006714139.2:c.10755G>T	XP_006714202.1:p.Gln3585His
XM_005262834.3:c.10755G>T	XP_005262891.1:p.Gln3585His
XM_005262835.2:c.10755G>T	XP_005262892.1:p.Gln3585His
XM_006714139.3:c.10755G>T	XP_006714202.1:p.Gln3585His
NM_005245.4:c.10755G>T MANE Select	NP_005236.2:p.Gln3585His