Canonical Allele Identifier: CA389052135
Community Standard Title: NM_000257.4(MYH7):c.746G>C (p.Arg249Pro)
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431468C>G , CM000676.2:g.23431468C>G GRCh38
NC_000014.8:g.23900677C>G , CM000676.1:g.23900677C>G GRCh37
NC_000014.7:g.22970517C>G NCBI36
NG_007884.1:g.9194G>C , LRG_384:g.9194G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000257.4:c.746G>C MANE Select NP_000248.2:p.Arg249Pro
ENST00000355349.4:c.746G>C MANE Select ENSP00000347507.3:p.Arg249Pro
NM_000257.3:c.746G>C NP_000248.2:p.Arg249Pro
ENST00000355349.3:c.746G>C ENSP00000347507.3:p.Arg249Pro
XM_017021340.1:c.746G>C XP_016876829.1:p.Arg249Pro
XR_245686.3:n.852G>C
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