Canonical Allele Identifier: CA2694722532
Gene: FRMD7 HGNC NCBI

Linked Data

gnomAD v4: X-132127947-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.132127947C>G , CM000685.2:g.132127947C>G GRCh38
NC_000023.10:g.131261975C>G , CM000685.1:g.131261975C>G GRCh37
NC_000023.9:g.131089656C>G NCBI36
NG_012347.1:g.5076G>C , LRG_867:g.5076G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298542.9:c.-103G>C MANE Select ENSP00000298542.3:n.-103G>C
ENST00000298542.8:c.-103G>C ENSP00000298542.3:n.-103G>C
NM_001306193.1:c.-103G>C NP_001293122.1:n.-103G>C
NM_194277.2:c.-103G>C , LRG_867t1:c.-103G>C NP_919253.1:n.-103G>C
NM_001306193.2:c.-103G>C NP_001293122.1:n.-103G>C
NM_194277.3:c.-103G>C MANE Select NP_919253.1:n.-103G>C
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