Canonical Allele Identifier: CA10643996
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 312905
ClinVar RCV Id: RCV000327602 RCV000326485 RCV000357658 RCV000384448 RCV001416434 RCV003320165
dbSNP Id: rs886050420
MyVariant Identifiers: chr14:g.23892900C>T (hg19) chr14:g.23423691C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423691C>T , CM000676.2:g.23423691C>T GRCh38
NC_000014.8:g.23892900C>T , CM000676.1:g.23892900C>T GRCh37
NC_000014.7:g.22962740C>T NCBI36
NG_007884.1:g.16971G>A , LRG_384:g.16971G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2955G>A MANE Select ENSP00000347507.3:p.Leu985=
ENST00000355349.3:c.2955G>A ENSP00000347507.3:p.Leu985=
NM_000257.3:c.2955G>A NP_000248.2:p.Leu985=
XR_245686.3:n.3061G>A
XM_017021340.1:c.2955G>A XP_016876829.1:p.Leu985=
NM_000257.4:c.2955G>A MANE Select NP_000248.2:p.Leu985=
Search 100 bp 5'
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