Canonical Allele Identifier: CA2123444899
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1595077418
gnomAD v4: 14-23419397-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419397T>C , CM000676.2:g.23419397T>C GRCh38
NC_000014.8:g.23888606T>C , CM000676.1:g.23888606T>C GRCh37
NC_000014.7:g.22958446T>C NCBI36
NG_007884.1:g.21265A>G , LRG_384:g.21265A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3853+86A>G MANE Select ENSP00000347507.3:n.3853+86A>G
ENST00000355349.3:c.3853+86A>G ENSP00000347507.3:n.3853+86A>G
NM_000257.3:c.3853+86A>G NP_000248.2:n.3853+86A>G
XM_017021340.1:c.3853+86A>G XP_016876829.1:n.3853+86A>G
NM_000257.4:c.3853+86A>G MANE Select NP_000248.2:n.3853+86A>G
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