Canonical Allele Identifier: CA389034721
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 925746
ClinVar RCV Id: RCV001187874 RCV001751338 RCV003293959 RCV002491558 RCV002560914
dbSNP Id: rs1295948508
gnomAD v3: 14-23413878-T-C
gnomAD v4: 14-23413878-T-C
MyVariant Identifiers: chr14:g.23883087T>C (hg19) chr14:g.23413878T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413878T>C , CM000676.2:g.23413878T>C GRCh38
NC_000014.8:g.23883087T>C , CM000676.1:g.23883087T>C GRCh37
NC_000014.7:g.22952927T>C NCBI36
NG_007884.1:g.26784A>G , LRG_384:g.26784A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5671A>G MANE Select ENSP00000347507.3:p.Thr1891Ala
ENST00000355349.3:c.5671A>G ENSP00000347507.3:p.Thr1891Ala
NM_000257.3:c.5671A>G NP_000248.2:p.Thr1891Ala
XM_017021340.1:c.5671A>G XP_016876829.1:p.Thr1891Ala
NM_000257.4:c.5671A>G MANE Select NP_000248.2:p.Thr1891Ala
Search 100 bp 5'
Search 100 bp 3'