Canonical Allele Identifier: CA013375
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42948
ClinVar RCV Id: RCV000629019 RCV001188088 RCV001258092 RCV001703459 RCV002321503 RCV002496541
dbSNP Id: rs397516178
ExAC: 14:23891500 C / A
gnomAD v2: 14-23891500-C-A
gnomAD v3: 14-23422291-C-A
gnomAD v4: 14-23422291-C-A
MyVariant Identifiers: chr14:g.23891500C>A (hg19) chr14:g.23422291C>A (hg38)
ERepo: CA013375/MONDO:0005045/002
PubMed: PMID:18533079 PMID:19659763 PMID:20215591
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422291C>A , CM000676.2:g.23422291C>A GRCh38
NC_000014.8:g.23891500C>A , CM000676.1:g.23891500C>A GRCh37
NC_000014.7:g.22961340C>A NCBI36
NG_007884.1:g.18371G>T , LRG_384:g.18371G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3134G>T MANE Select ENSP00000347507.3:p.Arg1045Leu
ENST00000355349.3:c.3134G>T ENSP00000347507.3:p.Arg1045Leu
NM_000257.3:c.3134G>T NP_000248.2:p.Arg1045Leu
XR_245686.3:n.3240G>T
XM_017021340.1:c.3134G>T XP_016876829.1:p.Arg1045Leu
NM_000257.4:c.3134G>T MANE Select NP_000248.2:p.Arg1045Leu
Search 100 bp 5'
Search 100 bp 3'