Canonical Allele Identifier: CA032011
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 454352
ClinVar RCV Id: RCV000526356 RCV003403247
dbSNP Id: rs758365123
ExAC: 14:23894897 T / C
gnomAD v2: 14-23894897-T-C
gnomAD v3: 14-23425688-T-C
gnomAD v4: 14-23425688-T-C
MyVariant Identifiers: chr14:g.23894897T>C (hg19) chr14:g.23425688T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425688T>C , CM000676.2:g.23425688T>C GRCh38
NC_000014.8:g.23894897T>C , CM000676.1:g.23894897T>C GRCh37
NC_000014.7:g.22964737T>C NCBI36
NG_007884.1:g.14974A>G , LRG_384:g.14974A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2286+7A>G MANE Select ENSP00000347507.3:n.2286+7A>G
ENST00000355349.3:c.2286+7A>G ENSP00000347507.3:n.2286+7A>G
NM_000257.3:c.2286+7A>G NP_000248.2:n.2286+7A>G
XR_245686.3:n.2392+7A>G
XM_017021340.1:c.2286+7A>G XP_016876829.1:n.2286+7A>G
NM_000257.4:c.2286+7A>G MANE Select NP_000248.2:n.2286+7A>G
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