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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:
CA014039
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
164299
ClinVar RCV Id:
RCV000151246
RCV001347825
RCV001753533
RCV001844051
dbSNP Id:
rs727503249
gnomAD v4:
14-23419588-G-A
MyVariant Identifiers:
chr14:g.23888797G>A (hg19)
chr14:g.23419588G>A (hg38)
PubMed:
PMID:20031619
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23419588G>A , CM000676.2:g.23419588G>A
GRCh38
NC_000014.8:g.23888797G>A , CM000676.1:g.23888797G>A
GRCh37
NC_000014.7:g.22958637G>A
NCBI36
NG_007884.1:g.21074C>T , LRG_384:g.21074C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.3748C>T
MANE Select
ENSP00000347507.3:p.Arg1250Trp
ENST00000355349.3:c.3748C>T
ENSP00000347507.3:p.Arg1250Trp
NM_000257.3:c.3748C>T
NP_000248.2:p.Arg1250Trp
XM_017021340.1:c.3748C>T
XP_016876829.1:p.Arg1250Trp
NM_000257.4:c.3748C>T
MANE Select
NP_000248.2:p.Arg1250Trp
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