Canonical Allele Identifier: CA039118
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2963257
ClinVar RCV Id: RCV003822911
dbSNP Id: rs755724326
ExAC: 14:23888676 C / T
gnomAD v2: 14-23888676-C-T
gnomAD v3: 14-23419467-C-T
gnomAD v4: 14-23419467-C-T
MyVariant Identifiers: chr14:g.23888676C>T (hg19) chr14:g.23419467C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419467C>T , CM000676.2:g.23419467C>T GRCh38
NC_000014.8:g.23888676C>T , CM000676.1:g.23888676C>T GRCh37
NC_000014.7:g.22958516C>T NCBI36
NG_007884.1:g.21195G>A , LRG_384:g.21195G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3853+16G>A MANE Select ENSP00000347507.3:n.3853+16G>A
ENST00000355349.3:c.3853+16G>A ENSP00000347507.3:n.3853+16G>A
NM_000257.3:c.3853+16G>A NP_000248.2:n.3853+16G>A
XM_017021340.1:c.3853+16G>A XP_016876829.1:n.3853+16G>A
NM_000257.4:c.3853+16G>A MANE Select NP_000248.2:n.3853+16G>A
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