Canonical Allele Identifier: CA704295586
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2190906
ClinVar RCV Id: RCV002616632
dbSNP Id: rs1166440691
gnomAD v3: 14-23427570-T-G
gnomAD v4: 14-23427570-T-G
MyVariant Identifiers: chr14:g.23896779T>G (hg19) chr14:g.23427570T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427570T>G , CM000676.2:g.23427570T>G GRCh38
NC_000014.8:g.23896779T>G , CM000676.1:g.23896779T>G GRCh37
NC_000014.7:g.22966619T>G NCBI36
NG_007884.1:g.13092A>C , LRG_384:g.13092A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1888+15A>C MANE Select ENSP00000347507.3:n.1888+15A>C
ENST00000355349.3:c.1888+15A>C ENSP00000347507.3:n.1888+15A>C
NM_000257.3:c.1888+15A>C NP_000248.2:n.1888+15A>C
XR_245686.3:n.1994+15A>C
XM_017021340.1:c.1888+15A>C XP_016876829.1:n.1888+15A>C
NM_000257.4:c.1888+15A>C MANE Select NP_000248.2:n.1888+15A>C
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