Canonical Allele Identifier: CA257789337
Gene: MYH6 HGNC NCBI

Linked Data

dbSNP Id: rs1041847348
MyVariant Identifiers: chr14:g.23865784T>G (hg19) chr14:g.23396575T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23396575T>G , CM000676.2:g.23396575T>G GRCh38
NC_000014.8:g.23865784T>G , CM000676.1:g.23865784T>G GRCh37
NC_000014.7:g.22935624T>G NCBI36
NG_023444.1:g.16703A>C , LRG_389:g.16703A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2292+119A>C MANE Select ENSP00000386041.3:n.2292+119A>C
ENST00000356287.3:c.2292+119A>C ENSP00000348634.3:n.2292+119A>C
ENST00000405093.7:c.2292+119A>C ENSP00000386041.3:n.2292+119A>C
NM_002471.3:c.2292+119A>C , LRG_389t1:c.2292+119A>C NP_002462.2:n.2292+119A>C
NM_002471.4:c.2292+119A>C MANE Select NP_002462.2:n.2292+119A>C
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