Allele Registry

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Canonical Allele Identifier: CA044449

Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

dbSNP Id: rs200457830

ExAC: 14:23885069 A / G

gnomAD v2: 14-23885069-A-G

gnomAD v4: 14-23415860-A-G

MyVariant Identifiers: chr14:g.23885069A>G (hg19) chr14:g.23885069_23885070delinsGG (hg19) chr14:g.23415860A>G (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23415860A>G , CM000676.2:g.23415860A>G	GRCh38
NC_000014.8:g.23885069A>G , CM000676.1:g.23885069A>G	GRCh37
NC_000014.7:g.22954909A>G	NCBI36
NG_007884.1:g.24802T>C , LRG_384:g.24802T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4954-28T>C (MYH7) MANE Select	ENSP00000347507.3:n.4954-28T>C
ENST00000355349.3:c.4954-28T>C (MYH7)	ENSP00000347507.3:n.4954-28T>C
NM_000257.3:c.4954-28T>C (MYH7)	NP_000248.2:n.4954-28T>C
NR_126491.1:n.261+31A>G (MHRT)
XM_017021340.1:c.4954-28T>C (MYH7)	XP_016876829.1:n.4954-28T>C
NM_000257.4:c.4954-28T>C (MYH7) MANE Select	NP_000248.2:n.4954-28T>C

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