Allele Registry

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Canonical Allele Identifier: CA613317967

Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

dbSNP Id: rs1294905478

gnomAD v2: 14-23886686-G-T

gnomAD v4: 14-23417477-G-T

MyVariant Identifiers: chr14:g.23886686G>T (hg19) chr14:g.23417477G>T (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23417477G>T , CM000676.2:g.23417477G>T	GRCh38
NC_000014.8:g.23886686G>T , CM000676.1:g.23886686G>T	GRCh37
NC_000014.7:g.22956526G>T	NCBI36
NG_007884.1:g.23185C>A , LRG_384:g.23185C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4353+26C>A (MYH7) MANE Select	ENSP00000347507.3:n.4353+26C>A
ENST00000355349.3:c.4353+26C>A (MYH7)	ENSP00000347507.3:n.4353+26C>A
NM_000257.3:c.4353+26C>A (MYH7)	NP_000248.2:n.4353+26C>A
NR_126491.1:n.814-56G>T (MHRT)
XM_017021340.1:c.4353+26C>A (MYH7)	XP_016876829.1:n.4353+26C>A
NM_000257.4:c.4353+26C>A (MYH7) MANE Select	NP_000248.2:n.4353+26C>A

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