Canonical Allele Identifier: CA2978164

Gene: FRAS1

Linked Data

• ClinVar Variation Id: 349755
• ClinVar RCV Id: RCV000304479 ; RCV000873180 ; RCV003950236
• dbSNP Id: rs144530996
• ExAC: 4:79394691 A / G
• gnomAD v2: 4-79394691-A-G
• gnomAD v3: 4-78473537-A-G
• gnomAD v4: 4-78473537-A-G
• MyVariant Identifiers: chr4:g.79394691A>G (hg19) ; chr4:g.78473537A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78473537A>G , CM000666.2:g.78473537A>G	GRCh38
NC_000004.11:g.79394691A>G , CM000666.1:g.79394691A>G	GRCh37
NC_000004.10:g.79613715A>G	NCBI36
NG_015812.1:g.420968A>G
NG_015812.2:g.420968A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682513.1:c.7622A>G	ENSP00000508201.1:p.Asn2541Ser
ENST00000512123.4:c.7622A>G MANE Select	ENSP00000422834.2:p.Asn2541Ser
ENST00000512123.3:c.7622A>G	ENSP00000422834.2:p.Asn2541Ser
NM_025074.6:c.7622A>G	NP_079350.5:p.Asn2541Ser
XM_006714314.1:c.7616A>G	XP_006714377.1:p.Asn2539Ser
XM_006714316.1:c.7394A>G	XP_006714379.1:p.Asn2465Ser
XM_011532270.1:c.5321A>G	XP_011530572.1:p.Asn1774Ser
XM_011532271.1:c.2510A>G	XP_011530573.1:p.Asn837Ser
XM_006714316.3:c.7394A>G	XP_006714379.1:p.Asn2465Ser
NM_025074.7:c.7622A>G MANE Select	NP_079350.5:p.Asn2541Ser