Canonical Allele Identifier: CA7116301
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1171502
ClinVar RCV Id: RCV001524687 RCV002070310
dbSNP Id: rs780476751
ExAC: 14:23891539 T / TAG
gnomAD v2: 14-23891539-T-TAG
gnomAD v4: 14-23422330-T-TAG
MyVariant Identifiers: chr14:g.23891539_23891540insAG (hg19) chr14:g.23422330_23422331insAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422336_23422337dup , CM000676.2:g.23422336_23422337dup GRCh38
NC_000014.8:g.23891545_23891546dup , CM000676.1:g.23891545_23891546dup GRCh37
NC_000014.7:g.22961385_22961386dup NCBI36
NG_007884.1:g.18330_18331dup , LRG_384:g.18330_18331dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3100-7_3100-6dup MANE Select ENSP00000347507.3:n.3100-7_3100-6dup
ENST00000355349.3:c.3100-7_3100-6dup ENSP00000347507.3:n.3100-7_3100-6dup
NM_000257.3:c.3100-7_3100-6dup NP_000248.2:n.3100-7_3100-6dup
XR_245686.3:n.3206-7_3206-6dup
XM_017021340.1:c.3100-7_3100-6dup XP_016876829.1:n.3100-7_3100-6dup
NM_000257.4:c.3100-7_3100-6dup MANE Select NP_000248.2:n.3100-7_3100-6dup
Search 100 bp 5'
Search 100 bp 3'