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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:
CA035844
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228907
ClinVar RCV Id:
RCV000222375
RCV000776202
RCV001057776
RCV001329731
dbSNP Id:
rs201195256
ExAC:
14:23891496 C / T
gnomAD v2:
14-23891496-C-T
gnomAD v3:
14-23422287-C-T
gnomAD v4:
14-23422287-C-T
COSMIC:
COSM3495226
MyVariant Identifiers:
chr14:g.23891496C>T (hg19)
chr14:g.23422287C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23422287C>T , CM000676.2:g.23422287C>T
GRCh38
NC_000014.8:g.23891496C>T , CM000676.1:g.23891496C>T
GRCh37
NC_000014.7:g.22961336C>T
NCBI36
NG_007884.1:g.18375G>A , LRG_384:g.18375G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355349.4:c.3138G>A
MANE Select
ENSP00000347507.3:p.Met1046Ile
ENST00000355349.3:c.3138G>A
ENSP00000347507.3:p.Met1046Ile
NM_000257.3:c.3138G>A
NP_000248.2:p.Met1046Ile
XR_245686.3:n.3244G>A
XM_017021340.1:c.3138G>A
XP_016876829.1:p.Met1046Ile
NM_000257.4:c.3138G>A
MANE Select
NP_000248.2:p.Met1046Ile
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