Canonical Allele Identifier: CA015515
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 188638
ClinVar RCV Id: RCV001180803 RCV001450136 RCV001668326 RCV002345565
dbSNP Id: rs112943492
ExAC: 14:23885015 T / G
gnomAD v2: 14-23885015-T-G
gnomAD v3: 14-23415806-T-G
gnomAD v4: 14-23415806-T-G
MyVariant Identifiers: chr14:g.23885015T>G (hg19) chr14:g.23415806T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415806T>G , CM000676.2:g.23415806T>G GRCh38
NC_000014.8:g.23885015T>G , CM000676.1:g.23885015T>G GRCh37
NC_000014.7:g.22954855T>G NCBI36
NG_007884.1:g.24856A>C , LRG_384:g.24856A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4980A>C (MYH7) MANE Select ENSP00000347507.3:p.Ala1660=
ENST00000355349.3:c.4980A>C (MYH7) ENSP00000347507.3:p.Ala1660=
NM_000257.3:c.4980A>C (MYH7) NP_000248.2:p.Ala1660=
NR_126491.1:n.238T>G (MHRT)
XM_017021340.1:c.4980A>C (MYH7) XP_016876829.1:p.Ala1660=
NM_000257.4:c.4980A>C (MYH7) MANE Select NP_000248.2:p.Ala1660=
Search 100 bp 5'
Search 100 bp 3'