Canonical Allele Identifier: CA257818616
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs866301351
gnomAD v3: 14-23423436-A-C
gnomAD v4: 14-23423436-A-C
MyVariant Identifiers: chr14:g.23892645A>C (hg19) chr14:g.23423436A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423436A>C , CM000676.2:g.23423436A>C GRCh38
NC_000014.8:g.23892645A>C , CM000676.1:g.23892645A>C GRCh37
NC_000014.7:g.22962485A>C NCBI36
NG_007884.1:g.17226T>G , LRG_384:g.17226T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+111T>G MANE Select ENSP00000347507.3:n.3099+111T>G
ENST00000355349.3:c.3099+111T>G ENSP00000347507.3:n.3099+111T>G
NM_000257.3:c.3099+111T>G NP_000248.2:n.3099+111T>G
XR_245686.3:n.3205+111T>G
XM_017021340.1:c.3099+111T>G XP_016876829.1:n.3099+111T>G
NM_000257.4:c.3099+111T>G MANE Select NP_000248.2:n.3099+111T>G
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