Canonical Allele Identifier: CA704289637
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1307491911
gnomAD v3: 14-23421320-A-T
gnomAD v4: 14-23421320-A-T
MyVariant Identifiers: chr14:g.23890529A>T (hg19) chr14:g.23421320A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23421320A>T , CM000676.2:g.23421320A>T GRCh38
NC_000014.8:g.23890529A>T , CM000676.1:g.23890529A>T GRCh37
NC_000014.7:g.22960369A>T NCBI36
NG_007884.1:g.19342T>A , LRG_384:g.19342T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3246-272T>A MANE Select ENSP00000347507.3:n.3246-272T>A
ENST00000355349.3:c.3246-272T>A ENSP00000347507.3:n.3246-272T>A
NM_000257.3:c.3246-272T>A NP_000248.2:n.3246-272T>A
XR_245686.3:n.3354-272T>A
XM_017021340.1:c.3246-272T>A XP_016876829.1:n.3246-272T>A
NM_000257.4:c.3246-272T>A MANE Select NP_000248.2:n.3246-272T>A
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