Canonical Allele Identifier: CA2575487103
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429192A>G , CM000676.2:g.23429192A>G GRCh38
NC_000014.8:g.23898401A>G , CM000676.1:g.23898401A>G GRCh37
NC_000014.7:g.22968241A>G NCBI36
NG_007884.1:g.11470T>C , LRG_384:g.11470T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1257+37T>C MANE Select ENSP00000347507.3:n.1257+37T>C
ENST00000355349.3:c.1257+37T>C ENSP00000347507.3:n.1257+37T>C
NM_000257.3:c.1257+37T>C NP_000248.2:n.1257+37T>C
XR_245686.3:n.1363+37T>C
XM_017021340.1:c.1257+37T>C XP_016876829.1:n.1257+37T>C
NM_000257.4:c.1257+37T>C MANE Select NP_000248.2:n.1257+37T>C
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