Canonical Allele Identifier: CA2694722566
Gene: FRMD7 HGNC NCBI

Linked Data

gnomAD v4: X-132127987-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.132127987G>C , CM000685.2:g.132127987G>C GRCh38
NC_000023.10:g.131262015G>C , CM000685.1:g.131262015G>C GRCh37
NC_000023.9:g.131089696G>C NCBI36
NG_012347.1:g.5036C>G , LRG_867:g.5036C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298542.9:c.-143C>G MANE Select ENSP00000298542.3:n.-143C>G
ENST00000298542.8:c.-143C>G ENSP00000298542.3:n.-143C>G
NM_001306193.1:c.-143C>G NP_001293122.1:n.-143C>G
NM_194277.2:c.-143C>G , LRG_867t1:c.-143C>G NP_919253.1:n.-143C>G
NM_001306193.2:c.-143C>G NP_001293122.1:n.-143C>G
NM_194277.3:c.-143C>G MANE Select NP_919253.1:n.-143C>G
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