Canonical Allele Identifier: CA2739277786
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2854207
ClinVar RCV Id: RCV003747733
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419464G>A , CM000676.2:g.23419464G>A GRCh38
NC_000014.8:g.23888673G>A , CM000676.1:g.23888673G>A GRCh37
NC_000014.7:g.22958513G>A NCBI36
NG_007884.1:g.21198C>T , LRG_384:g.21198C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3853+19C>T MANE Select ENSP00000347507.3:n.3853+19C>T
ENST00000355349.3:c.3853+19C>T ENSP00000347507.3:n.3853+19C>T
NM_000257.3:c.3853+19C>T NP_000248.2:n.3853+19C>T
XM_017021340.1:c.3853+19C>T XP_016876829.1:n.3853+19C>T
NM_000257.4:c.3853+19C>T MANE Select NP_000248.2:n.3853+19C>T
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