Canonical Allele Identifier: CA033771
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs770120297
ExAC: 14:23893941 C / T
gnomAD v2: 14-23893941-C-T
gnomAD v4: 14-23424732-C-T
MyVariant Identifiers: chr14:g.23893941C>T (hg19) chr14:g.23424732C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424732C>T , CM000676.2:g.23424732C>T GRCh38
NC_000014.8:g.23893941C>T , CM000676.1:g.23893941C>T GRCh37
NC_000014.7:g.22963781C>T NCBI36
NG_007884.1:g.15930G>A , LRG_384:g.15930G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2679+37G>A MANE Select ENSP00000347507.3:n.2679+37G>A
ENST00000355349.3:c.2679+37G>A ENSP00000347507.3:n.2679+37G>A
NM_000257.3:c.2679+37G>A NP_000248.2:n.2679+37G>A
XR_245686.3:n.2785+37G>A
XM_017021340.1:c.2679+37G>A XP_016876829.1:n.2679+37G>A
NM_000257.4:c.2679+37G>A MANE Select NP_000248.2:n.2679+37G>A
Search 100 bp 5'
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