Canonical Allele Identifier: CA011148
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42860
ClinVar RCV Id: RCV000035741 RCV000799659 RCV003298054 RCV003223608 RCV003486554
dbSNP Id: rs377491278
ExAC: 14:23896982 C / T
gnomAD v2: 14-23896982-C-T
gnomAD v3: 14-23427773-C-T
gnomAD v4: 14-23427773-C-T
MyVariant Identifiers: chr14:g.23896982C>T (hg19) chr14:g.23427773C>T (hg38)
ERepo: CA011148/MONDO:0005021/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427773C>T , CM000676.2:g.23427773C>T GRCh38
NC_000014.8:g.23896982C>T , CM000676.1:g.23896982C>T GRCh37
NC_000014.7:g.22966822C>T NCBI36
NG_007884.1:g.12889G>A , LRG_384:g.12889G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1700G>A MANE Select ENSP00000347507.3:p.Arg567His
ENST00000355349.3:c.1700G>A ENSP00000347507.3:p.Arg567His
NM_000257.3:c.1700G>A NP_000248.2:p.Arg567His
XR_245686.3:n.1806G>A
XM_017021340.1:c.1700G>A XP_016876829.1:p.Arg567His
NM_000257.4:c.1700G>A MANE Select NP_000248.2:p.Arg567His
Search 100 bp 5'
Search 100 bp 3'