Canonical Allele Identifier: CA3164878

Gene: FAT1

Linked Data

• ClinVar Variation Id: 1258710
• ClinVar RCV Id: RCV001671240
• dbSNP Id: rs1280096
• ExAC: 4:187518980 T / C
• gnomAD v2: 4-187518980-T-C
• gnomAD v3: 4-186597826-T-C
• gnomAD v4: 4-186597826-T-C
• MyVariant Identifiers: chr4:g.187518980T>C (hg19) ; chr4:g.186597826T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186597826T>C , CM000666.2:g.186597826T>C	GRCh38
NC_000004.11:g.187518980T>C , CM000666.1:g.187518980T>C	GRCh37
NC_000004.10:g.187755974T>C	NCBI36
NG_046994.1:g.134090A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441802.7:c.12258-34A>G MANE Select	ENSP00000406229.2:n.12258-34A>G
ENST00000441802.6:c.12258-34A>G	ENSP00000406229.2:n.12258-34A>G
ENST00000507105.1:c.54-34A>G
ENST00000507662.1:n.157-34A>G
ENST00000512347.1:n.450-34A>G
ENST00000614102.4:c.12264-34A>G	ENSP00000479573.1:n.12264-34A>G
NM_005245.3:c.12258-34A>G	NP_005236.2:n.12258-34A>G
XM_005262834.2:c.12258-34A>G	XP_005262891.1:n.12258-34A>G
XM_005262835.1:c.12258-34A>G	XP_005262892.1:n.12258-34A>G
XM_006714139.2:c.12258-34A>G	XP_006714202.1:n.12258-34A>G
XM_005262834.3:c.12258-34A>G	XP_005262891.1:n.12258-34A>G
XM_005262835.2:c.12258-34A>G	XP_005262892.1:n.12258-34A>G
XM_006714139.3:c.12258-34A>G	XP_006714202.1:n.12258-34A>G
NM_005245.4:c.12258-34A>G MANE Select	NP_005236.2:n.12258-34A>G