Canonical Allele Identifier: CA015454
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 43044
ClinVar RCV Id: RCV000035938 RCV000148696 RCV000465008 RCV000620929 RCV000758026 RCV000989185 RCV000853439 RCV002227441 RCV001703873 RCV004541080
dbSNP Id: rs141122361
ExAC: 14:23885257 C / T
gnomAD v2: 14-23885257-C-T
gnomAD v3: 14-23416048-C-T
gnomAD v4: 14-23416048-C-T
MyVariant Identifiers: chr14:g.23885257C>T (hg19) chr14:g.23416048C>T (hg38)
ERepo: CA015454/MONDO:0004994/002
PubMed: PMID:20624503 PMID:20800588 PMID:22958901 PMID:23299917 PMID:23782526 PMID:24055113 PMID:24510615 PMID:25637381 PMID:29300372
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416048C>T , CM000676.2:g.23416048C>T GRCh38
NC_000014.8:g.23885257C>T , CM000676.1:g.23885257C>T GRCh37
NC_000014.7:g.22955097C>T NCBI36
NG_007884.1:g.24614G>A , LRG_384:g.24614G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4909G>A (MYH7) MANE Select ENSP00000347507.3:p.Ala1637Thr
ENST00000355349.3:c.4909G>A (MYH7) ENSP00000347507.3:p.Ala1637Thr
NM_000257.3:c.4909G>A (MYH7) NP_000248.2:p.Ala1637Thr
NR_126491.1:n.309C>T (MHRT)
XM_017021340.1:c.4909G>A (MYH7) XP_016876829.1:p.Ala1637Thr
NM_000257.4:c.4909G>A (MYH7) MANE Select NP_000248.2:p.Ala1637Thr
Search 100 bp 5'
Search 100 bp 3'