Canonical Allele Identifier: CA704269849
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1194797823
gnomAD v4: 14-23432558-G-C
MyVariant Identifiers: chr14:g.23901767G>C (hg19) chr14:g.23432558G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23432558G>C , CM000676.2:g.23432558G>C GRCh38
NC_000014.8:g.23901767G>C , CM000676.1:g.23901767G>C GRCh37
NC_000014.7:g.22971607G>C NCBI36
NG_007884.1:g.8104C>G , LRG_384:g.8104C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.503-52C>G MANE Select ENSP00000347507.3:n.503-52C>G
ENST00000355349.3:c.503-52C>G ENSP00000347507.3:n.503-52C>G
NM_000257.3:c.503-52C>G NP_000248.2:n.503-52C>G
XR_245686.3:n.609-52C>G
XM_017021340.1:c.503-52C>G XP_016876829.1:n.503-52C>G
NM_000257.4:c.503-52C>G MANE Select NP_000248.2:n.503-52C>G
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