Canonical Allele Identifier: CA485618843
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 915795
ClinVar RCV Id: RCV001171203 RCV001403176 RCV001615132 RCV002375049
dbSNP Id: rs1424491117
gnomAD v2: 14-23887613-C-T
gnomAD v3: 14-23418404-C-T
gnomAD v4: 14-23418404-C-T
MyVariant Identifiers: chr14:g.23887613C>T (hg19) chr14:g.23418404C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23418404C>T , CM000676.2:g.23418404C>T GRCh38
NC_000014.8:g.23887613C>T , CM000676.1:g.23887613C>T GRCh37
NC_000014.7:g.22957453C>T NCBI36
NG_007884.1:g.22258G>A , LRG_384:g.22258G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3975G>A MANE Select ENSP00000347507.3:p.Ala1325=
ENST00000355349.3:c.3975G>A ENSP00000347507.3:p.Ala1325=
NM_000257.3:c.3975G>A NP_000248.2:p.Ala1325=
XM_017021340.1:c.3975G>A XP_016876829.1:p.Ala1325=
NM_000257.4:c.3975G>A MANE Select NP_000248.2:p.Ala1325=
Search 100 bp 5'
Search 100 bp 3'