Canonical Allele Identifier: CA612937366
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v2: 14-23892701-T-A
gnomAD v3: 14-23423492-T-A
gnomAD v4: 14-23423492-T-A
MyVariant Identifiers: chr14:g.23892701T>A (hg19) chr14:g.23423492T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423492T>A , CM000676.2:g.23423492T>A GRCh38
NC_000014.8:g.23892701T>A , CM000676.1:g.23892701T>A GRCh37
NC_000014.7:g.22962541T>A NCBI36
NG_007884.1:g.17170A>T , LRG_384:g.17170A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+55A>T MANE Select ENSP00000347507.3:n.3099+55A>T
ENST00000355349.3:c.3099+55A>T ENSP00000347507.3:n.3099+55A>T
NM_000257.3:c.3099+55A>T NP_000248.2:n.3099+55A>T
XR_245686.3:n.3205+55A>T
XM_017021340.1:c.3099+55A>T XP_016876829.1:n.3099+55A>T
NM_000257.4:c.3099+55A>T MANE Select NP_000248.2:n.3099+55A>T
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