Canonical Allele Identifier: CA335861151
Gene: FRMD7 HGNC NCBI

Linked Data

dbSNP Id: rs1009661063
gnomAD v2: X-131261979-A-G
gnomAD v3: X-132127951-A-G
gnomAD v4: X-132127951-A-G
MyVariant Identifiers: chrX:g.131261979A>G (hg19) chrX:g.132127951A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.132127951A>G , CM000685.2:g.132127951A>G GRCh38
NC_000023.10:g.131261979A>G , CM000685.1:g.131261979A>G GRCh37
NC_000023.9:g.131089660A>G NCBI36
NG_012347.1:g.5072T>C , LRG_867:g.5072T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298542.9:c.-107T>C MANE Select ENSP00000298542.3:n.-107T>C
ENST00000298542.8:c.-107T>C ENSP00000298542.3:n.-107T>C
NM_001306193.1:c.-107T>C NP_001293122.1:n.-107T>C
NM_194277.2:c.-107T>C , LRG_867t1:c.-107T>C NP_919253.1:n.-107T>C
NM_001306193.2:c.-107T>C NP_001293122.1:n.-107T>C
NM_194277.3:c.-107T>C MANE Select NP_919253.1:n.-107T>C
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