Canonical Allele Identifier: CA048841
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2724351
ClinVar RCV Id: RCV003587136
dbSNP Id: rs768818450
ExAC: 14:23900774 C / T
gnomAD v2: 14-23900774-C-T
gnomAD v4: 14-23431565-C-T
MyVariant Identifiers: chr14:g.23900774C>T (hg19) chr14:g.23431565C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431565C>T , CM000676.2:g.23431565C>T GRCh38
NC_000014.8:g.23900774C>T , CM000676.1:g.23900774C>T GRCh37
NC_000014.7:g.22970614C>T NCBI36
NG_007884.1:g.9097G>A , LRG_384:g.9097G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.732+20G>A MANE Select ENSP00000347507.3:n.732+20G>A
ENST00000355349.3:c.732+20G>A ENSP00000347507.3:n.732+20G>A
NM_000257.3:c.732+20G>A NP_000248.2:n.732+20G>A
XR_245686.3:n.838+20G>A
XM_017021340.1:c.732+20G>A XP_016876829.1:n.732+20G>A
NM_000257.4:c.732+20G>A MANE Select NP_000248.2:n.732+20G>A
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