Canonical Allele Identifier: CA613317675
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1460106248
gnomAD v2: 14-23888857-G-T
gnomAD v4: 14-23419648-G-T
MyVariant Identifiers: chr14:g.23888857G>T (hg19) chr14:g.23419648G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419648G>T , CM000676.2:g.23419648G>T GRCh38
NC_000014.8:g.23888857G>T , CM000676.1:g.23888857G>T GRCh37
NC_000014.7:g.22958697G>T NCBI36
NG_007884.1:g.21014C>A , LRG_384:g.21014C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3727-39C>A MANE Select ENSP00000347507.3:n.3727-39C>A
ENST00000355349.3:c.3727-39C>A ENSP00000347507.3:n.3727-39C>A
NM_000257.3:c.3727-39C>A NP_000248.2:n.3727-39C>A
XM_017021340.1:c.3727-39C>A XP_016876829.1:n.3727-39C>A
NM_000257.4:c.3727-39C>A MANE Select NP_000248.2:n.3727-39C>A
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