Canonical Allele Identifier: CA2123450941
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1892920283
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431185A>G , CM000676.2:g.23431185A>G GRCh38
NC_000014.8:g.23900394A>G , CM000676.1:g.23900394A>G GRCh37
NC_000014.7:g.22970234A>G NCBI36
NG_007884.1:g.9477T>C , LRG_384:g.9477T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.797-186T>C MANE Select ENSP00000347507.3:n.797-186T>C
ENST00000355349.3:c.797-186T>C ENSP00000347507.3:n.797-186T>C
NM_000257.3:c.797-186T>C NP_000248.2:n.797-186T>C
XR_245686.3:n.903-186T>C
XM_017021340.1:c.797-186T>C XP_016876829.1:n.797-186T>C
NM_000257.4:c.797-186T>C MANE Select NP_000248.2:n.797-186T>C
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