Canonical Allele Identifier: CA2979180
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78537166C>T
GRCh37 chr4:g.79458320C>T
Revel Score:
ENST00000264895 0.566
gnomAD v2:
4:79458320 C / T
gnomAD v3:
4:78537166 C / T
gnomAD v4:
chr4-78537166-C-T
Joint Max Group AF 0.00175891 (NFE)
Genomes Max Group AF 0.00173865 (NFE)
Exomes Max Group AF 0.00174521 (NFE)
ClinVar RCV:
RCV000334766
RCV000388584
ClinVar Variation:
287853
dbSNP:
199510509
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78537166C>T , CM000666.2:g.78537166C>T GRCh38
NC_000004.11:g.79458320C>T , CM000666.1:g.79458320C>T GRCh37
NC_000004.10:g.79677344C>T NCBI36
NG_015812.1:g.484597C>T
NG_015812.2:g.484597C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000512123.4:c.11264C>T MANE Select ENSP00000422834.2:p.Pro3755Leu
ENST00000512123.3:c.11264C>T ENSP00000422834.2:p.Pro3755Leu
NM_025074.6:c.11264C>T NP_079350.5:p.Pro3755Leu
XM_006714314.1:c.11258C>T XP_006714377.1:p.Pro3753Leu
XM_006714316.1:c.11036C>T XP_006714379.1:p.Pro3679Leu
XM_011532270.1:c.8963C>T XP_011530572.1:p.Pro2988Leu
XM_011532271.1:c.6152C>T XP_011530573.1:p.Pro2051Leu
XM_006714316.3:c.11036C>T XP_006714379.1:p.Pro3679Leu
NM_025074.7:c.11264C>T MANE Select NP_079350.5:p.Pro3755Leu
Search 100 bp 5'
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