Canonical Allele Identifier: CA2979264

Gene: FRAS1

Linked Data

• ClinVar Variation Id: 281464
• ClinVar RCV Id: RCV000283373 ; RCV000394472 ; RCV000870810
• dbSNP Id: rs145035489
• ExAC: 4:79461844 A / G
• gnomAD v2: 4-79461844-A-G
• gnomAD v3: 4-78540690-A-G
• gnomAD v4: 4-78540690-A-G
• MyVariant Identifiers: chr4:g.79461844A>G (hg19) ; chr4:g.78540690A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78540690A>G , CM000666.2:g.78540690A>G	GRCh38
NC_000004.11:g.79461844A>G , CM000666.1:g.79461844A>G	GRCh37
NC_000004.10:g.79680868A>G	NCBI36
NG_015812.1:g.488121A>G
NG_015812.2:g.488121A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512123.4:c.11605A>G MANE Select	ENSP00000422834.2:p.Ile3869Val
ENST00000512123.3:c.11605A>G	ENSP00000422834.2:p.Ile3869Val
NM_025074.6:c.11605A>G	NP_079350.5:p.Ile3869Val
XM_006714314.1:c.11599A>G	XP_006714377.1:p.Ile3867Val
XM_006714316.1:c.11377A>G	XP_006714379.1:p.Ile3793Val
XM_011532270.1:c.9304A>G	XP_011530572.1:p.Ile3102Val
XM_011532271.1:c.6493A>G	XP_011530573.1:p.Ile2165Val
XM_006714316.3:c.11377A>G	XP_006714379.1:p.Ile3793Val
NM_025074.7:c.11605A>G MANE Select	NP_079350.5:p.Ile3869Val