×
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:
CA389047305
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1329406
ClinVar RCV Id:
RCV001799449
dbSNP Id:
rs397516165
MyVariant Identifiers:
chr14:g.23893327C>A (hg19)
chr14:g.23424118C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23424118C>A , CM000676.2:g.23424118C>A
GRCh38
NC_000014.8:g.23893327C>A , CM000676.1:g.23893327C>A
GRCh37
NC_000014.7:g.22963167C>A
NCBI36
NG_007884.1:g.16544G>T , LRG_384:g.16544G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.2711G>T
MANE Select
ENSP00000347507.3:p.Arg904Leu
ENST00000355349.3:c.2711G>T
ENSP00000347507.3:p.Arg904Leu
NM_000257.3:c.2711G>T
NP_000248.2:p.Arg904Leu
XR_245686.3:n.2817G>T
XM_017021340.1:c.2711G>T
XP_016876829.1:p.Arg904Leu
NM_000257.4:c.2711G>T
MANE Select
NP_000248.2:p.Arg904Leu
Search 100 bp 5'
Search 100 bp 3'