Canonical Allele Identifier: CA612938698
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1307060446
gnomAD v2: 14-23903289-A-T
gnomAD v3: 14-23434080-A-T
gnomAD v4: 14-23434080-A-T
MyVariant Identifiers: chr14:g.23903289A>T (hg19) chr14:g.23434080A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23434080A>T , CM000676.2:g.23434080A>T GRCh38
NC_000014.8:g.23903289A>T , CM000676.1:g.23903289A>T GRCh37
NC_000014.7:g.22973129A>T NCBI36
NG_007884.1:g.6582T>A , LRG_384:g.6582T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-9+114T>A MANE Select ENSP00000347507.3:n.-9+114T>A
ENST00000355349.3:c.-9+114T>A ENSP00000347507.3:n.-9+114T>A
NM_000257.3:c.-9+114T>A NP_000248.2:n.-9+114T>A
XR_245686.3:n.98+114T>A
XM_017021340.1:c.-8-340T>A XP_016876829.1:n.-8-340T>A
NM_000257.4:c.-9+114T>A MANE Select NP_000248.2:n.-9+114T>A
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