Canonical Allele Identifier: CA039080
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 834111
ClinVar RCV Id: RCV001034736 RCV001805978 RCV002363547
dbSNP Id: rs45565337
ExAC: 14:23888693 A / G
gnomAD v2: 14-23888693-A-G
gnomAD v3: 14-23419484-A-G
gnomAD v4: 14-23419484-A-G
MyVariant Identifiers: chr14:g.23888693A>G (hg19) chr14:g.23419484A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419484A>G , CM000676.2:g.23419484A>G GRCh38
NC_000014.8:g.23888693A>G , CM000676.1:g.23888693A>G GRCh37
NC_000014.7:g.22958533A>G NCBI36
NG_007884.1:g.21178T>C , LRG_384:g.21178T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3852T>C MANE Select ENSP00000347507.3:p.Asn1284=
ENST00000355349.3:c.3852T>C ENSP00000347507.3:p.Asn1284=
NM_000257.3:c.3852T>C NP_000248.2:p.Asn1284=
XM_017021340.1:c.3852T>C XP_016876829.1:p.Asn1284=
NM_000257.4:c.3852T>C MANE Select NP_000248.2:p.Asn1284=
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