Canonical Allele Identifier: CA10653781
Gene: FRMD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.132077579C>G , CM000685.2:g.132077579C>G GRCh38
NC_000023.10:g.131211607C>G , CM000685.1:g.131211607C>G GRCh37
NC_000023.9:g.131039288C>G NCBI36
NG_012347.1:g.55444G>C , LRG_867:g.55444G>C
NG_029562.1:g.59363C>G

Transcript Alleles

HGVS Amino-acid Change
NM_194277.3:c.*293G>C MANE Select NP_919253.1:n.*293G>C
ENST00000298542.9:c.*293G>C MANE Select ENSP00000298542.3:n.*293G>C
NM_001306193.1:c.*293G>C NP_001293122.1:n.*293G>C
NM_001306193.2:c.*293G>C NP_001293122.1:n.*293G>C
NM_194277.2:c.*293G>C , LRG_867t1:c.*293G>C NP_919253.1:n.*293G>C
ENST00000298542.8:c.*293G>C ENSP00000298542.3:n.*293G>C
ENST00000370879.5:c.*293G>C ENSP00000359916.1:n.*293G>C
XM_017029947.2:c.*293G>C XP_016885436.1:n.*293G>C
XM_017029948.2:c.*293G>C XP_016885437.1:n.*293G>C
XM_017029949.2:c.*293G>C XP_016885438.1:n.*293G>C