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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA016070
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181279
ClinVar RCV Id:
RCV000158699
RCV000214438
dbSNP Id:
rs730880817
MyVariant Identifiers:
chr14:g.23884364G>A (hg19)
chr14:g.23415155G>A (hg38)
ERepo:
CA016070/MONDO:0005021/002
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23415155G>A , CM000676.2:g.23415155G>A
GRCh38
NC_000014.8:g.23884364G>A , CM000676.1:g.23884364G>A
GRCh37
NC_000014.7:g.22954204G>A
NCBI36
NG_007884.1:g.25507C>T , LRG_384:g.25507C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.5399C>T
MANE Select
ENSP00000347507.3:p.Ala1800Val
ENST00000355349.3:c.5399C>T
ENSP00000347507.3:p.Ala1800Val
NM_000257.3:c.5399C>T
NP_000248.2:p.Ala1800Val
XM_017021340.1:c.5399C>T
XP_016876829.1:p.Ala1800Val
NM_000257.4:c.5399C>T
MANE Select
NP_000248.2:p.Ala1800Val
Search 100 bp 5'
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