Canonical Allele Identifier: CA2979013

Gene: FRAS1

Linked Data

• ClinVar Variation Id: 281466
• ClinVar RCV Id: RCV000336848 ; RCV000406248 ; RCV000870808
• dbSNP Id: rs144715071
• ExAC: 4:79442730 A / G
• gnomAD v2: 4-79442730-A-G
• gnomAD v3: 4-78521576-A-G
• gnomAD v4: 4-78521576-A-G
• MyVariant Identifiers: chr4:g.79442730A>G (hg19) ; chr4:g.78521576A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78521576A>G , CM000666.2:g.78521576A>G	GRCh38
NC_000004.11:g.79442730A>G , CM000666.1:g.79442730A>G	GRCh37
NC_000004.10:g.79661754A>G	NCBI36
NG_015812.1:g.469007A>G
NG_015812.2:g.469007A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512123.4:c.10594A>G MANE Select	ENSP00000422834.2:p.Ile3532Val
ENST00000512123.3:c.10594A>G	ENSP00000422834.2:p.Ile3532Val
NM_025074.6:c.10594A>G	NP_079350.5:p.Ile3532Val
XM_006714314.1:c.10588A>G	XP_006714377.1:p.Ile3530Val
XM_006714316.1:c.10366A>G	XP_006714379.1:p.Ile3456Val
XM_011532270.1:c.8293A>G	XP_011530572.1:p.Ile2765Val
XM_011532271.1:c.5482A>G	XP_011530573.1:p.Ile1828Val
XM_006714316.3:c.10366A>G	XP_006714379.1:p.Ile3456Val
NM_025074.7:c.10594A>G MANE Select	NP_079350.5:p.Ile3532Val