Canonical Allele Identifier: CA612936601
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1252164626
gnomAD v2: 14-23883130-A-AG
MyVariant Identifiers: chr14:g.23883130_23883131insG (hg19) chr14:g.23413921_23413922insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413926dup , CM000676.2:g.23413926dup GRCh38
NC_000014.8:g.23883135dup , CM000676.1:g.23883135dup GRCh37
NC_000014.7:g.22952975dup NCBI36
NG_007884.1:g.26740dup , LRG_384:g.26740dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5656-29dup MANE Select ENSP00000347507.3:n.5656-29dup
ENST00000355349.3:c.5656-29dup ENSP00000347507.3:n.5656-29dup
NM_000257.3:c.5656-29dup NP_000248.2:n.5656-29dup
XM_017021340.1:c.5656-29dup XP_016876829.1:n.5656-29dup
NM_000257.4:c.5656-29dup MANE Select NP_000248.2:n.5656-29dup
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Search 100 bp 3'