Allele Registry

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Canonical Allele Identifier: CA704284074

Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

dbSNP Id: rs1337922554

gnomAD v3: 14-23415887-A-G

gnomAD v4: 14-23415887-A-G

MyVariant Identifiers: chr14:g.23885096A>G (hg19) chr14:g.23415887A>G (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23415887A>G , CM000676.2:g.23415887A>G	GRCh38
NC_000014.8:g.23885096A>G , CM000676.1:g.23885096A>G	GRCh37
NC_000014.7:g.22954936A>G	NCBI36
NG_007884.1:g.24775T>C , LRG_384:g.24775T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4954-55T>C (MYH7) MANE Select	ENSP00000347507.3:n.4954-55T>C
ENST00000355349.3:c.4954-55T>C (MYH7)	ENSP00000347507.3:n.4954-55T>C
NM_000257.3:c.4954-55T>C (MYH7)	NP_000248.2:n.4954-55T>C
NR_126491.1:n.261+58A>G (MHRT)
XM_017021340.1:c.4954-55T>C (MYH7)	XP_016876829.1:n.4954-55T>C
NM_000257.4:c.4954-55T>C (MYH7) MANE Select	NP_000248.2:n.4954-55T>C

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