Canonical Allele Identifier: CA039123
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1574542
ClinVar RCV Id: RCV002080770
dbSNP Id: rs755724326
ExAC: 14:23888676 C / A
gnomAD v2: 14-23888676-C-A
gnomAD v4: 14-23419467-C-A
MyVariant Identifiers: chr14:g.23888676C>A (hg19) chr14:g.23419467C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

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