Canonical Allele Identifier: CA10619346
Gene: FRAS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 349868
ClinVar RCV Id: RCV000295922
dbSNP Id: rs553394027
gnomAD v2: 4-79465235-T-A
gnomAD v3: 4-78544081-T-A
gnomAD v4: 4-78544081-T-A
MyVariant Identifiers: chr4:g.79465235T>A (hg19) chr4:g.78544081T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78544081T>A , CM000666.2:g.78544081T>A GRCh38
NC_000004.11:g.79465235T>A , CM000666.1:g.79465235T>A GRCh37
NC_000004.10:g.79684259T>A NCBI36
NG_015812.1:g.491512T>A
NG_015812.2:g.491512T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000512123.4:c.*2957T>A MANE Select ENSP00000422834.2:n.*2957T>A
ENST00000512123.3:c.*2957T>A ENSP00000422834.2:n.*2957T>A
NM_025074.6:c.*2957T>A NP_079350.5:n.*2957T>A
XM_006714314.1:c.*2957T>A XP_006714377.1:n.*2957T>A
XM_006714316.1:c.*2957T>A XP_006714379.1:n.*2957T>A
XM_011532270.1:c.*2957T>A XP_011530572.1:n.*2957T>A
XM_011532271.1:c.*2957T>A XP_011530573.1:n.*2957T>A
XM_006714316.3:c.*2957T>A XP_006714379.1:n.*2957T>A
NM_025074.7:c.*2957T>A MANE Select NP_079350.5:n.*2957T>A
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