Canonical Allele Identifier: CA077498
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 222730
ClinVar RCV Id: RCV000208188 RCV000628959 RCV001178631 RCV001329733 RCV001788068 RCV002336579 RCV002503822
dbSNP Id: rs545875689
gnomAD v3: 14-23416056-C-T
gnomAD v4: 14-23416056-C-T
COSMIC: COSM4704648
MyVariant Identifiers: chr14:g.23885265C>T (hg19) chr14:g.23416056C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416056C>T , CM000676.2:g.23416056C>T GRCh38
NC_000014.8:g.23885265C>T , CM000676.1:g.23885265C>T GRCh37
NC_000014.7:g.22955105C>T NCBI36
NG_007884.1:g.24606G>A , LRG_384:g.24606G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.4901G>A (MYH7) MANE Select ENSP00000347507.3:p.Arg1634His
ENST00000355349.3:c.4901G>A (MYH7) ENSP00000347507.3:p.Arg1634His
NM_000257.3:c.4901G>A (MYH7) NP_000248.2:p.Arg1634His
NR_126491.1:n.317C>T (MHRT)
XM_017021340.1:c.4901G>A (MYH7) XP_016876829.1:p.Arg1634His
NM_000257.4:c.4901G>A (MYH7) MANE Select NP_000248.2:p.Arg1634His
Search 100 bp 5'
Search 100 bp 3'