Canonical Allele Identifier: CA011388
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 178890
ClinVar RCV Id: RCV000155662 RCV003748186
dbSNP Id: rs727504516
ExAC: 14:23896781 A / C
gnomAD v2: 14-23896781-A-C
gnomAD v3: 14-23427572-A-C
gnomAD v4: 14-23427572-A-C
MyVariant Identifiers: chr14:g.23896781A>C (hg19) chr14:g.23427572A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427572A>C , CM000676.2:g.23427572A>C GRCh38
NC_000014.8:g.23896781A>C , CM000676.1:g.23896781A>C GRCh37
NC_000014.7:g.22966621A>C NCBI36
NG_007884.1:g.13090T>G , LRG_384:g.13090T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1888+13T>G MANE Select ENSP00000347507.3:n.1888+13T>G
ENST00000355349.3:c.1888+13T>G ENSP00000347507.3:n.1888+13T>G
NM_000257.3:c.1888+13T>G NP_000248.2:n.1888+13T>G
XR_245686.3:n.1994+13T>G
XM_017021340.1:c.1888+13T>G XP_016876829.1:n.1888+13T>G
NM_000257.4:c.1888+13T>G MANE Select NP_000248.2:n.1888+13T>G
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