Canonical Allele Identifier: CA257816179
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs146008226
gnomAD v2: 14-23889873-G-T
gnomAD v3: 14-23420664-G-T
gnomAD v4: 14-23420664-G-T
MyVariant Identifiers: chr14:g.23889873G>T (hg19) chr14:g.23420664G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420664G>T , CM000676.2:g.23420664G>T GRCh38
NC_000014.8:g.23889873G>T , CM000676.1:g.23889873G>T GRCh37
NC_000014.7:g.22959713G>T NCBI36
NG_007884.1:g.19998C>A , LRG_384:g.19998C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3336+294C>A MANE Select ENSP00000347507.3:n.3336+294C>A
ENST00000355349.3:c.3336+294C>A ENSP00000347507.3:n.3336+294C>A
NM_000257.3:c.3336+294C>A NP_000248.2:n.3336+294C>A
XR_245686.3:n.3444+294C>A
XM_017021340.1:c.3336+294C>A XP_016876829.1:n.3336+294C>A
NM_000257.4:c.3336+294C>A MANE Select NP_000248.2:n.3336+294C>A
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