Canonical Allele Identifier: CA048261
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 512211
ClinVar RCV Id: RCV000609576 RCV001401149
dbSNP Id: rs546582990
ExAC: 14:23882958 A / G
gnomAD v2: 14-23882958-A-G
gnomAD v3: 14-23413749-A-G
gnomAD v4: 14-23413749-A-G
MyVariant Identifiers: chr14:g.23882958A>G (hg19) chr14:g.23413749A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413749A>G , CM000676.2:g.23413749A>G GRCh38
NC_000014.8:g.23882958A>G , CM000676.1:g.23882958A>G GRCh37
NC_000014.7:g.22952798A>G NCBI36
NG_007884.1:g.26913T>C , LRG_384:g.26913T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5790+10T>C MANE Select ENSP00000347507.3:n.5790+10T>C
ENST00000355349.3:c.5790+10T>C ENSP00000347507.3:n.5790+10T>C
NM_000257.3:c.5790+10T>C NP_000248.2:n.5790+10T>C
XM_017021340.1:c.5790+10T>C XP_016876829.1:n.5790+10T>C
NM_000257.4:c.5790+10T>C MANE Select NP_000248.2:n.5790+10T>C
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