×
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:
CA046876
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1284652
ClinVar RCV Id:
RCV001700538
RCV002287505
RCV002477894
RCV004008967
dbSNP Id:
rs769112519
ExAC:
14:23884293 T / C
gnomAD v2:
14-23884293-T-C
gnomAD v3:
14-23415084-T-C
gnomAD v4:
14-23415084-T-C
MyVariant Identifiers:
chr14:g.23884293T>C (hg19)
chr14:g.23415084T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23415084T>C , CM000676.2:g.23415084T>C
GRCh38
NC_000014.8:g.23884293T>C , CM000676.1:g.23884293T>C
GRCh37
NC_000014.7:g.22954133T>C
NCBI36
NG_007884.1:g.25578A>G , LRG_384:g.25578A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355349.4:c.5470A>G
MANE Select
ENSP00000347507.3:p.Asn1824Asp
ENST00000355349.3:c.5470A>G
ENSP00000347507.3:p.Asn1824Asp
NM_000257.3:c.5470A>G
NP_000248.2:p.Asn1824Asp
XM_017021340.1:c.5470A>G
XP_016876829.1:p.Asn1824Asp
NM_000257.4:c.5470A>G
MANE Select
NP_000248.2:p.Asn1824Asp
Search 100 bp 5'
Search 100 bp 3'