Canonical Allele Identifier: CA389045655
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1351767887
gnomAD v2: 14-23892767-G-A
gnomAD v4: 14-23423558-G-A
MyVariant Identifiers: chr14:g.23892767G>A (hg19) chr14:g.23423558G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423558G>A , CM000676.2:g.23423558G>A GRCh38
NC_000014.8:g.23892767G>A , CM000676.1:g.23892767G>A GRCh37
NC_000014.7:g.22962607G>A NCBI36
NG_007884.1:g.17104C>T , LRG_384:g.17104C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3088C>T MANE Select ENSP00000347507.3:p.Gln1030Ter
ENST00000355349.3:c.3088C>T ENSP00000347507.3:p.Gln1030Ter
NM_000257.3:c.3088C>T NP_000248.2:p.Gln1030Ter
XR_245686.3:n.3194C>T
XM_017021340.1:c.3088C>T XP_016876829.1:p.Gln1030Ter
NM_000257.4:c.3088C>T MANE Select NP_000248.2:p.Gln1030Ter
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