Canonical Allele Identifier: CA358990662

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186709108C>G , CM000666.2:g.186709108C>G	GRCh38
NC_000004.11:g.187630262C>G , CM000666.1:g.187630262C>G	GRCh37
NC_000004.10:g.187867256C>G	NCBI36
NG_046994.1:g.22808G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005245.4:c.720G>C MANE Select	NP_005236.2:p.Met240Ile
ENST00000441802.7:c.720G>C MANE Select	ENSP00000406229.2:p.Met240Ile
NM_005245.3:c.720G>C	NP_005236.2:p.Met240Ile
ENST00000441802.6:c.720G>C	ENSP00000406229.2:p.Met240Ile
ENST00000509647.1:c.720G>C	ENSP00000423736.1:p.Met240Ile
ENST00000614102.4:c.720G>C	ENSP00000479573.1:p.Met240Ile
XM_005262834.2:c.720G>C	XP_005262891.1:p.Met240Ile
XM_005262834.3:c.720G>C	XP_005262891.1:p.Met240Ile
XM_005262835.1:c.720G>C	XP_005262892.1:p.Met240Ile
XM_005262835.2:c.720G>C	XP_005262892.1:p.Met240Ile
XM_006714139.2:c.720G>C	XP_006714202.1:p.Met240Ile
XM_006714139.3:c.720G>C	XP_006714202.1:p.Met240Ile