Canonical Allele Identifier: CA871588103
Community Standard Title: NM_194277.3(FRMD7):c.285-12A>G
Gene: FRMD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.132094151T>C , CM000685.2:g.132094151T>C GRCh38
NC_000023.10:g.131228179T>C , CM000685.1:g.131228179T>C GRCh37
NC_000023.9:g.131055860T>C NCBI36
NG_012347.1:g.38872A>G , LRG_867:g.38872A>G

Transcript Alleles

HGVS Amino-acid Change
NM_194277.3:c.285-12A>G MANE Select NP_919253.1:n.285-12A>G
ENST00000298542.9:c.285-12A>G MANE Select ENSP00000298542.3:n.285-12A>G
NM_001306193.1:c.240-12A>G NP_001293122.1:n.240-12A>G
NM_001306193.2:c.240-12A>G NP_001293122.1:n.240-12A>G
NM_194277.2:c.285-12A>G , LRG_867t1:c.285-12A>G NP_919253.1:n.285-12A>G
ENST00000298542.8:c.285-12A>G ENSP00000298542.3:n.285-12A>G
ENST00000370879.5:c.-88A>G ENSP00000359916.1:n.-88A>G
ENST00000464296.1:c.240-12A>G ENSP00000417996.1:n.240-12A>G
XM_017029947.2:c.237-12A>G XP_016885436.1:n.237-12A>G
XM_017029948.2:c.30-12A>G XP_016885437.1:n.30-12A>G
XM_017029949.2:c.-199A>G XP_016885438.1:n.-199A>G