Canonical Allele Identifier: CA358976879

Gene: FAT1

Linked Data

• dbSNP Id: rs2126434590
• MyVariant Identifiers: chr4:g.187525027G>C (hg19) ; chr4:g.186603873G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186603873G>C , CM000666.2:g.186603873G>C	GRCh38
NC_000004.11:g.187525027G>C , CM000666.1:g.187525027G>C	GRCh37
NC_000004.10:g.187762021G>C	NCBI36
NG_046994.1:g.128043C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000441802.7:c.10653C>G MANE Select	ENSP00000406229.2:p.Phe3551Leu
ENST00000441802.6:c.10653C>G	ENSP00000406229.2:p.Phe3551Leu
ENST00000614102.4:c.10659C>G	ENSP00000479573.1:p.Phe3553Leu
NM_005245.3:c.10653C>G	NP_005236.2:p.Phe3551Leu
XM_005262834.2:c.10653C>G	XP_005262891.1:p.Phe3551Leu
XM_005262835.1:c.10653C>G	XP_005262892.1:p.Phe3551Leu
XM_006714139.2:c.10653C>G	XP_006714202.1:p.Phe3551Leu
XM_005262834.3:c.10653C>G	XP_005262891.1:p.Phe3551Leu
XM_005262835.2:c.10653C>G	XP_005262892.1:p.Phe3551Leu
XM_006714139.3:c.10653C>G	XP_006714202.1:p.Phe3551Leu
NM_005245.4:c.10653C>G MANE Select	NP_005236.2:p.Phe3551Leu