Canonical Allele Identifier: CA358976889

Gene: FAT1

Linked Data

• gnomAD v4: 4-186603877-A-G
• MyVariant Identifiers: chr4:g.187525031A>G (hg19) ; chr4:g.186603877A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186603877A>G , CM000666.2:g.186603877A>G	GRCh38
NC_000004.11:g.187525031A>G , CM000666.1:g.187525031A>G	GRCh37
NC_000004.10:g.187762025A>G	NCBI36
NG_046994.1:g.128039T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000441802.7:c.10649T>C MANE Select	ENSP00000406229.2:p.Ile3550Thr
ENST00000441802.6:c.10649T>C	ENSP00000406229.2:p.Ile3550Thr
ENST00000614102.4:c.10655T>C	ENSP00000479573.1:p.Ile3552Thr
NM_005245.3:c.10649T>C	NP_005236.2:p.Ile3550Thr
XM_005262834.2:c.10649T>C	XP_005262891.1:p.Ile3550Thr
XM_005262835.1:c.10649T>C	XP_005262892.1:p.Ile3550Thr
XM_006714139.2:c.10649T>C	XP_006714202.1:p.Ile3550Thr
XM_005262834.3:c.10649T>C	XP_005262891.1:p.Ile3550Thr
XM_005262835.2:c.10649T>C	XP_005262892.1:p.Ile3550Thr
XM_006714139.3:c.10649T>C	XP_006714202.1:p.Ile3550Thr
NM_005245.4:c.10649T>C MANE Select	NP_005236.2:p.Ile3550Thr