Canonical Allele Identifier: CA044783
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 662104
ClinVar RCV Id: RCV000819672 RCV001187948 RCV002336700
dbSNP Id: rs550015662
ExAC: 14:23884981 C / T
gnomAD v2: 14-23884981-C-T
gnomAD v3: 14-23415772-C-T
gnomAD v4: 14-23415772-C-T
MyVariant Identifiers: chr14:g.23884981C>T (hg19) chr14:g.23415772C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415772C>T , CM000676.2:g.23415772C>T GRCh38
NC_000014.8:g.23884981C>T , CM000676.1:g.23884981C>T GRCh37
NC_000014.7:g.22954821C>T NCBI36
NG_007884.1:g.24890G>A , LRG_384:g.24890G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5014G>A (MYH7) MANE Select ENSP00000347507.3:p.Ala1672Thr
ENST00000355349.3:c.5014G>A (MYH7) ENSP00000347507.3:p.Ala1672Thr
NM_000257.3:c.5014G>A (MYH7) NP_000248.2:p.Ala1672Thr
NR_126491.1:n.204C>T (MHRT)
XM_017021340.1:c.5014G>A (MYH7) XP_016876829.1:p.Ala1672Thr
NM_000257.4:c.5014G>A (MYH7) MANE Select NP_000248.2:p.Ala1672Thr
Search 100 bp 5'
Search 100 bp 3'