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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:
CA014172
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42978
ClinVar RCV Id:
RCV000035871
RCV000628955
RCV001198766
RCV001525525
RCV004018776
RCV003129764
dbSNP Id:
rs397516196
ExAC:
14:23888502 C / T
gnomAD v2:
14-23888502-C-T
gnomAD v3:
14-23419293-C-T
gnomAD v4:
14-23419293-C-T
MyVariant Identifiers:
chr14:g.23888502C>T (hg19)
chr14:g.23419293C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23419293C>T , CM000676.2:g.23419293C>T
GRCh38
NC_000014.8:g.23888502C>T , CM000676.1:g.23888502C>T
GRCh37
NC_000014.7:g.22958342C>T
NCBI36
NG_007884.1:g.21369G>A , LRG_384:g.21369G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.3856G>A
MANE Select
ENSP00000347507.3:p.Glu1286Lys
ENST00000355349.3:c.3856G>A
ENSP00000347507.3:p.Glu1286Lys
NM_000257.3:c.3856G>A
NP_000248.2:p.Glu1286Lys
XM_017021340.1:c.3856G>A
XP_016876829.1:p.Glu1286Lys
NM_000257.4:c.3856G>A
MANE Select
NP_000248.2:p.Glu1286Lys
Search 100 bp 5'
Search 100 bp 3'