Canonical Allele Identifier: CA2976856

Gene: FRAS1

Linked Data

• ClinVar Variation Id: 349705
• ClinVar RCV Id: RCV000398648 ; RCV003708526
• dbSNP Id: rs776449329
• ExAC: 4:79296883 T / C
• gnomAD v2: 4-79296883-T-C
• gnomAD v3: 4-78375729-T-C
• gnomAD v4: 4-78375729-T-C
• MyVariant Identifiers: chr4:g.79296883T>C (hg19) ; chr4:g.78375729T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78375729T>C , CM000666.2:g.78375729T>C	GRCh38
NC_000004.11:g.79296883T>C , CM000666.1:g.79296883T>C	GRCh37
NC_000004.10:g.79515907T>C	NCBI36
NG_015812.1:g.323160T>C
NG_015812.2:g.323160T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325942.11:c.3152-10T>C	ENSP00000326330.6:n.3152-10T>C
ENST00000682513.1:c.3152-10T>C	ENSP00000508201.1:n.3152-10T>C
ENST00000684159.1:c.3152-10T>C	ENSP00000506875.1:n.3152-10T>C
ENST00000512123.4:c.3152-10T>C MANE Select	ENSP00000422834.2:n.3152-10T>C
ENST00000264899.10:c.845-68374T>C	ENSP00000264899.7:n.845-68374T>C
ENST00000325942.10:c.3152-10T>C	ENSP00000326330.6:n.3152-10T>C
ENST00000512123.3:c.3152-10T>C	ENSP00000422834.2:n.3152-10T>C
NM_001166133.1:c.3152-10T>C	NP_001159605.1:n.3152-10T>C
NM_025074.6:c.3152-10T>C	NP_079350.5:n.3152-10T>C
XM_006714314.1:c.3152-10T>C	XP_006714377.1:n.3152-10T>C
XM_006714316.1:c.3152-10T>C	XP_006714379.1:n.3152-10T>C
XM_011532270.1:c.851-10T>C	XP_011530572.1:n.851-10T>C
XM_006714316.3:c.3152-10T>C	XP_006714379.1:n.3152-10T>C
NM_025074.7:c.3152-10T>C MANE Select	NP_079350.5:n.3152-10T>C
NM_001166133.2:c.3152-10T>C	NP_001159605.1:n.3152-10T>C