Canonical Allele Identifier: CA441374516

Gene: FAT4

Linked Data

• dbSNP Id: rs1298149230
• gnomAD v2: 4-126412710-C-G
• gnomAD v3: 4-125491555-C-G
• gnomAD v4: 4-125491555-C-G
• MyVariant Identifiers: chr4:g.126412710C>G (hg19) ; chr4:g.125491555C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125491555C>G , CM000666.2:g.125491555C>G	GRCh38
NC_000004.11:g.126412710C>G , CM000666.1:g.126412710C>G	GRCh37
NC_000004.10:g.126632160C>G	NCBI36
NG_033865.1:g.180144C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.14739C>G MANE Select	ENSP00000377862.4:p.Gly4913=
ENST00000674496.2:c.9510C>G	ENSP00000501473.2:p.Gly3170=
ENST00000335110.5:c.9456C>G	ENSP00000335169.5:p.Gly3152=
ENST00000394329.7:c.14733C>G	ENSP00000377862.3:p.Gly4911=
NM_001291285.1:c.14736C>G	NP_001278214.1:p.Gly4912=
NM_001291303.1:c.14739C>G	NP_001278232.1:p.Gly4913=
NM_024582.4:c.14733C>G	NP_078858.4:p.Gly4911=
XM_011532236.1:c.14739C>G	XP_011530538.1:p.Gly4913=
XM_011532237.1:c.9510C>G	XP_011530539.1:p.Gly3170=
XM_011532236.2:c.14739C>G	XP_011530538.1:p.Gly4913=
XM_011532237.2:c.9510C>G	XP_011530539.1:p.Gly3170=
NM_001291285.2:c.14736C>G	NP_001278214.1:p.Gly4912=
NM_001291303.3:c.14739C>G MANE Select	NP_001278232.1:p.Gly4913=
NM_024582.5:c.14733C>G	NP_078858.4:p.Gly4911=
NM_001291285.3:c.14736C>G	NP_001278214.1:p.Gly4912=
NM_024582.6:c.14733C>G	NP_078858.4:p.Gly4911=