×
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:
CA389053579
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1465859
ClinVar RCV Id:
RCV001963828
RCV003226514
dbSNP Id:
rs2138686446
gnomAD v4:
14-23433533-T-G
MyVariant Identifiers:
chr14:g.23902742T>G (hg19)
chr14:g.23433533T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23433533T>G , CM000676.2:g.23433533T>G
GRCh38
NC_000014.8:g.23902742T>G , CM000676.1:g.23902742T>G
GRCh37
NC_000014.7:g.22972582T>G
NCBI36
NG_007884.1:g.7129A>C , LRG_384:g.7129A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.200A>C
MANE Select
ENSP00000347507.3:p.Lys67Thr
ENST00000355349.3:c.200A>C
ENSP00000347507.3:p.Lys67Thr
NM_000257.3:c.200A>C
NP_000248.2:p.Lys67Thr
XR_245686.3:n.306A>C
XM_017021340.1:c.200A>C
XP_016876829.1:p.Lys67Thr
NM_000257.4:c.200A>C
MANE Select
NP_000248.2:p.Lys67Thr
Search 100 bp 5'
Search 100 bp 3'