Canonical Allele Identifier: CA257810362
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 922597
ClinVar RCV Id: RCV001182746 RCV002560829
dbSNP Id: rs1008225259
gnomAD v2: 14-23885208-A-G
gnomAD v3: 14-23415999-A-G
gnomAD v4: 14-23415999-A-G
MyVariant Identifiers: chr14:g.23885208A>G (hg19) chr14:g.23415999A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415999A>G , CM000676.2:g.23415999A>G GRCh38
NC_000014.8:g.23885208A>G , CM000676.1:g.23885208A>G GRCh37
NC_000014.7:g.22955048A>G NCBI36
NG_007884.1:g.24663T>C , LRG_384:g.24663T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4953+5T>C (MYH7) MANE Select ENSP00000347507.3:n.4953+5T>C
ENST00000355349.3:c.4953+5T>C (MYH7) ENSP00000347507.3:n.4953+5T>C
NM_000257.3:c.4953+5T>C (MYH7) NP_000248.2:n.4953+5T>C
NR_126491.1:n.262-2A>G (MHRT)
XM_017021340.1:c.4953+5T>C (MYH7) XP_016876829.1:n.4953+5T>C
NM_000257.4:c.4953+5T>C (MYH7) MANE Select NP_000248.2:n.4953+5T>C
Search 100 bp 5'
Search 100 bp 3'