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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:
CA035801
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
651054
ClinVar RCV Id:
RCV000806326
RCV001192144
RCV003372860
RCV003442090
dbSNP Id:
rs397516178
ExAC:
14:23891500 C / T
gnomAD v2:
14-23891500-C-T
gnomAD v3:
14-23422291-C-T
gnomAD v4:
14-23422291-C-T
MyVariant Identifiers:
chr14:g.23891500C>T (hg19)
chr14:g.23422291C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23422291C>T , CM000676.2:g.23422291C>T
GRCh38
NC_000014.8:g.23891500C>T , CM000676.1:g.23891500C>T
GRCh37
NC_000014.7:g.22961340C>T
NCBI36
NG_007884.1:g.18371G>A , LRG_384:g.18371G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.3134G>A
MANE Select
ENSP00000347507.3:p.Arg1045His
ENST00000355349.3:c.3134G>A
ENSP00000347507.3:p.Arg1045His
NM_000257.3:c.3134G>A
NP_000248.2:p.Arg1045His
XR_245686.3:n.3240G>A
XM_017021340.1:c.3134G>A
XP_016876829.1:p.Arg1045His
NM_000257.4:c.3134G>A
MANE Select
NP_000248.2:p.Arg1045His
Search 100 bp 5'
Search 100 bp 3'