Canonical Allele Identifier: CA1139663379
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 928068
ClinVar RCV Id: RCV001191719
dbSNP Id: rs1892931557
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431414T>C , CM000676.2:g.23431414T>C GRCh38
NC_000014.8:g.23900623T>C , CM000676.1:g.23900623T>C GRCh37
NC_000014.7:g.22970463T>C NCBI36
NG_007884.1:g.9248A>G , LRG_384:g.9248A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.796+4A>G MANE Select ENSP00000347507.3:n.796+4A>G
ENST00000355349.3:c.796+4A>G ENSP00000347507.3:n.796+4A>G
NM_000257.3:c.796+4A>G NP_000248.2:n.796+4A>G
XR_245686.3:n.902+4A>G
XM_017021340.1:c.796+4A>G XP_016876829.1:n.796+4A>G
NM_000257.4:c.796+4A>G MANE Select NP_000248.2:n.796+4A>G
Search 100 bp 5'
Search 100 bp 3'