Canonical Allele Identifier: CA2123450222
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1892491776
gnomAD v4: 14-23422047-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422047C>T , CM000676.2:g.23422047C>T GRCh38
NC_000014.8:g.23891256C>T , CM000676.1:g.23891256C>T GRCh37
NC_000014.7:g.22961096C>T NCBI36
NG_007884.1:g.18615G>A , LRG_384:g.18615G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3245+133G>A MANE Select ENSP00000347507.3:n.3245+133G>A
ENST00000355349.3:c.3245+133G>A ENSP00000347507.3:n.3245+133G>A
NM_000257.3:c.3245+133G>A NP_000248.2:n.3245+133G>A
XR_245686.3:n.3351+133G>A
XM_017021340.1:c.3245+133G>A XP_016876829.1:n.3245+133G>A
NM_000257.4:c.3245+133G>A MANE Select NP_000248.2:n.3245+133G>A
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