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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:
CA048119
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
571738
ClinVar RCV Id:
RCV000692963
RCV001567885
RCV002485659
RCV002343470
RCV003486919
dbSNP Id:
rs747451109
ExAC:
14:23883021 C / T
gnomAD v2:
14-23883021-C-T
gnomAD v3:
14-23413812-C-T
gnomAD v4:
14-23413812-C-T
COSMIC:
COSM2031714
MyVariant Identifiers:
chr14:g.23883021C>T (hg19)
chr14:g.23413812C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23413812C>T , CM000676.2:g.23413812C>T
GRCh38
NC_000014.8:g.23883021C>T , CM000676.1:g.23883021C>T
GRCh37
NC_000014.7:g.22952861C>T
NCBI36
NG_007884.1:g.26850G>A , LRG_384:g.26850G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355349.4:c.5737G>A
MANE Select
ENSP00000347507.3:p.Ala1913Thr
ENST00000355349.3:c.5737G>A
ENSP00000347507.3:p.Ala1913Thr
NM_000257.3:c.5737G>A
NP_000248.2:p.Ala1913Thr
XM_017021340.1:c.5737G>A
XP_016876829.1:p.Ala1913Thr
NM_000257.4:c.5737G>A
MANE Select
NP_000248.2:p.Ala1913Thr
Search 100 bp 5'
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