Canonical Allele Identifier: CA2979329

Gene: FRAS1

Linked Data

• ClinVar Variation Id: 281469
• ClinVar RCV Id: RCV000366948 ; RCV000405453 ; RCV000870813 ; RCV003909910
• dbSNP Id: rs140492803
• ExAC: 4:79462146 C / G
• gnomAD v2: 4-79462146-C-G
• gnomAD v3: 4-78540992-C-G
• gnomAD v4: 4-78540992-C-G
• MyVariant Identifiers: chr4:g.79462146C>G (hg19) ; chr4:g.78540992C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78540992C>G , CM000666.2:g.78540992C>G	GRCh38
NC_000004.11:g.79462146C>G , CM000666.1:g.79462146C>G	GRCh37
NC_000004.10:g.79681170C>G	NCBI36
NG_015812.1:g.488423C>G
NG_015812.2:g.488423C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512123.4:c.11907C>G MANE Select	ENSP00000422834.2:p.His3969Gln
ENST00000512123.3:c.11907C>G	ENSP00000422834.2:p.His3969Gln
NM_025074.6:c.11907C>G	NP_079350.5:p.His3969Gln
XM_006714314.1:c.11901C>G	XP_006714377.1:p.His3967Gln
XM_006714316.1:c.11679C>G	XP_006714379.1:p.His3893Gln
XM_011532270.1:c.9606C>G	XP_011530572.1:p.His3202Gln
XM_011532271.1:c.6795C>G	XP_011530573.1:p.His2265Gln
XM_006714316.3:c.11679C>G	XP_006714379.1:p.His3893Gln
NM_025074.7:c.11907C>G MANE Select	NP_079350.5:p.His3969Gln