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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:
CA389053606
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1331750
ClinVar RCV Id:
RCV001804266
RCV003487789
RCV003772223
dbSNP Id:
rs2138686468
gnomAD v4:
14-23433540-A-G
MyVariant Identifiers:
chr14:g.23902749A>G (hg19)
chr14:g.23433540A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23433540A>G , CM000676.2:g.23433540A>G
GRCh38
NC_000014.8:g.23902749A>G , CM000676.1:g.23902749A>G
GRCh37
NC_000014.7:g.22972589A>G
NCBI36
NG_007884.1:g.7122T>C , LRG_384:g.7122T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.193T>C
MANE Select
ENSP00000347507.3:p.Tyr65His
ENST00000355349.3:c.193T>C
ENSP00000347507.3:p.Tyr65His
NM_000257.3:c.193T>C
NP_000248.2:p.Tyr65His
XR_245686.3:n.299T>C
XM_017021340.1:c.193T>C
XP_016876829.1:p.Tyr65His
NM_000257.4:c.193T>C
MANE Select
NP_000248.2:p.Tyr65His
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