Canonical Allele Identifier: CA257819167
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs907942590
gnomAD v2: 14-23893712-T-G
gnomAD v3: 14-23424503-T-G
gnomAD v4: 14-23424503-T-G
MyVariant Identifiers: chr14:g.23893712T>G (hg19) chr14:g.23424503T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424503T>G , CM000676.2:g.23424503T>G GRCh38
NC_000014.8:g.23893712T>G , CM000676.1:g.23893712T>G GRCh37
NC_000014.7:g.22963552T>G NCBI36
NG_007884.1:g.16159A>C , LRG_384:g.16159A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2679+266A>C MANE Select ENSP00000347507.3:n.2679+266A>C
ENST00000355349.3:c.2679+266A>C ENSP00000347507.3:n.2679+266A>C
NM_000257.3:c.2679+266A>C NP_000248.2:n.2679+266A>C
XR_245686.3:n.2785+266A>C
XM_017021340.1:c.2679+266A>C XP_016876829.1:n.2679+266A>C
NM_000257.4:c.2679+266A>C MANE Select NP_000248.2:n.2679+266A>C
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