Canonical Allele Identifier: CA389040251
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 2239012
ClinVar RCV Id: RCV004102960
MyVariant Identifiers: chr14:g.23886786C>T (hg19) chr14:g.23417577C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417577C>T , CM000676.2:g.23417577C>T GRCh38
NC_000014.8:g.23886786C>T , CM000676.1:g.23886786C>T GRCh37
NC_000014.7:g.22956626C>T NCBI36
NG_007884.1:g.23085G>A , LRG_384:g.23085G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4279G>A (MYH7) MANE Select ENSP00000347507.3:p.Asp1427Asn
ENST00000355349.3:c.4279G>A (MYH7) ENSP00000347507.3:p.Asp1427Asn
NM_000257.3:c.4279G>A (MYH7) NP_000248.2:p.Asp1427Asn
NR_126491.1:n.858C>T (MHRT)
XM_017021340.1:c.4279G>A (MYH7) XP_016876829.1:p.Asp1427Asn
NM_000257.4:c.4279G>A (MYH7) MANE Select NP_000248.2:p.Asp1427Asn
Search 100 bp 5'
Search 100 bp 3'