Canonical Allele Identifier: CA014765
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 164289
ClinVar RCV Id: RCV000208499 RCV000618508 RCV000777946 RCV000473362 RCV001701529 RCV002505151
dbSNP Id: rs727503244
ExAC: 14:23886782 A / G
gnomAD v2: 14-23886782-A-G
gnomAD v3: 14-23417573-A-G
gnomAD v4: 14-23417573-A-G
MyVariant Identifiers: chr14:g.23886782A>G (hg19) chr14:g.23417573A>G (hg38)
PubMed: PMID:20818890 PMID:25611685 PMID:26914223 PMID:27247418 PMID:27532257 PMID:28606303
ERepo: CA014765/MONDO:0005045/002
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417573A>G , CM000676.2:g.23417573A>G GRCh38
NC_000014.8:g.23886782A>G , CM000676.1:g.23886782A>G GRCh37
NC_000014.7:g.22956622A>G NCBI36
NG_007884.1:g.23089T>C , LRG_384:g.23089T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4283T>C (MYH7) MANE Select ENSP00000347507.3:p.Leu1428Ser
ENST00000355349.3:c.4283T>C (MYH7) ENSP00000347507.3:p.Leu1428Ser
NM_000257.3:c.4283T>C (MYH7) NP_000248.2:p.Leu1428Ser
NR_126491.1:n.854A>G (MHRT)
XM_017021340.1:c.4283T>C (MYH7) XP_016876829.1:p.Leu1428Ser
NM_000257.4:c.4283T>C (MYH7) MANE Select NP_000248.2:p.Leu1428Ser
Search 100 bp 5'
Search 100 bp 3'