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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:
CA012529
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181193
ClinVar RCV Id:
RCV000158544
dbSNP Id:
rs730880747
MyVariant Identifiers:
chr14:g.23894139G>T (hg19)
chr14:g.23424930G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23424930G>T , CM000676.2:g.23424930G>T
GRCh38
NC_000014.8:g.23894139G>T , CM000676.1:g.23894139G>T
GRCh37
NC_000014.7:g.22963979G>T
NCBI36
NG_007884.1:g.15732C>A , LRG_384:g.15732C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.2518C>A
MANE Select
ENSP00000347507.3:p.Leu840Met
ENST00000355349.3:c.2518C>A
ENSP00000347507.3:p.Leu840Met
NM_000257.3:c.2518C>A
NP_000248.2:p.Leu840Met
XR_245686.3:n.2624C>A
XM_017021340.1:c.2518C>A
XP_016876829.1:p.Leu840Met
NM_000257.4:c.2518C>A
MANE Select
NP_000248.2:p.Leu840Met
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