Canonical Allele Identifier: CA2976788

Gene: FRAS1

Linked Data

• ClinVar Variation Id: 265541
• ClinVar RCV Id: RCV000255482 ; RCV002500960
• dbSNP Id: rs574631014
• ExAC: 4:79294013 G / A
• gnomAD v2: 4-79294013-G-A
• gnomAD v3: 4-78372859-G-A
• gnomAD v4: 4-78372859-G-A
• MyVariant Identifiers: chr4:g.79294013G>A (hg19) ; chr4:g.78372859G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78372859G>A , CM000666.2:g.78372859G>A	GRCh38
NC_000004.11:g.79294013G>A , CM000666.1:g.79294013G>A	GRCh37
NC_000004.10:g.79513037G>A	NCBI36
NG_015812.1:g.320290G>A
NG_015812.2:g.320290G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325942.11:c.3010+1G>A	ENSP00000326330.6:n.3010+1G>A
ENST00000682513.1:c.3010+1G>A	ENSP00000508201.1:n.3010+1G>A
ENST00000684159.1:c.3010+1G>A	ENSP00000506875.1:n.3010+1G>A
ENST00000512123.4:c.3010+1G>A MANE Select	ENSP00000422834.2:n.3010+1G>A
ENST00000264899.10:c.845-71244G>A	ENSP00000264899.7:n.845-71244G>A
ENST00000325942.10:c.3010+1G>A	ENSP00000326330.6:n.3010+1G>A
ENST00000512123.3:c.3010+1G>A	ENSP00000422834.2:n.3010+1G>A
NM_001166133.1:c.3010+1G>A	NP_001159605.1:n.3010+1G>A
NM_025074.6:c.3010+1G>A	NP_079350.5:n.3010+1G>A
XM_006714314.1:c.3010+1G>A	XP_006714377.1:n.3010+1G>A
XM_006714316.1:c.3010+1G>A	XP_006714379.1:n.3010+1G>A
XM_011532270.1:c.709+1G>A	XP_011530572.1:n.709+1G>A
XM_006714316.3:c.3010+1G>A	XP_006714379.1:n.3010+1G>A
NM_025074.7:c.3010+1G>A MANE Select	NP_079350.5:n.3010+1G>A
NM_001166133.2:c.3010+1G>A	NP_001159605.1:n.3010+1G>A