Canonical Allele Identifier: CA389051128
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 915671
ClinVar RCV Id: RCV001170741
dbSNP Id: rs1892824991
gnomAD v4: 14-23429283-G-T
MyVariant Identifiers: chr14:g.23898492G>T (hg19) chr14:g.23429283G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429283G>T , CM000676.2:g.23429283G>T GRCh38
NC_000014.8:g.23898492G>T , CM000676.1:g.23898492G>T GRCh37
NC_000014.7:g.22968332G>T NCBI36
NG_007884.1:g.11379C>A , LRG_384:g.11379C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1203C>A MANE Select ENSP00000347507.3:p.His401Gln
ENST00000355349.3:c.1203C>A ENSP00000347507.3:p.His401Gln
NM_000257.3:c.1203C>A NP_000248.2:p.His401Gln
XR_245686.3:n.1309C>A
XM_017021340.1:c.1203C>A XP_016876829.1:p.His401Gln
NM_000257.4:c.1203C>A MANE Select NP_000248.2:p.His401Gln
Search 100 bp 5'
Search 100 bp 3'