×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA257819656
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
519199
ClinVar RCV Id:
RCV000617745
RCV001185562
RCV001584438
RCV001860383
dbSNP Id:
rs113580172
gnomAD v4:
14-23425281-C-T
MyVariant Identifiers:
chr14:g.23894490C>T (hg19)
chr14:g.23425281C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23425281C>T , CM000676.2:g.23425281C>T
GRCh38
NC_000014.8:g.23894490C>T , CM000676.1:g.23894490C>T
GRCh37
NC_000014.7:g.22964330C>T
NCBI36
NG_007884.1:g.15381G>A , LRG_384:g.15381G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.2423+1G>A
MANE Select
ENSP00000347507.3:n.2423+1G>A
ENST00000355349.3:c.2423+1G>A
ENSP00000347507.3:n.2423+1G>A
NM_000257.3:c.2423+1G>A
NP_000248.2:n.2423+1G>A
XR_245686.3:n.2529+1G>A
XM_017021340.1:c.2423+1G>A
XP_016876829.1:n.2423+1G>A
NM_000257.4:c.2423+1G>A
MANE Select
NP_000248.2:n.2423+1G>A
Search 100 bp 5'
Search 100 bp 3'