Canonical Allele Identifier: CA613317966

Gene: MYH7 MHRT

Linked Data

• dbSNP Id: rs1458025426
• gnomAD v2: 14-23886685-T-G
• gnomAD v3: 14-23417476-T-G
• gnomAD v4: 14-23417476-T-G
• MyVariant Identifiers: chr14:g.23886685T>G (hg19) ; chr14:g.23417476T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23417476T>G , CM000676.2:g.23417476T>G	GRCh38
NC_000014.8:g.23886685T>G , CM000676.1:g.23886685T>G	GRCh37
NC_000014.7:g.22956525T>G	NCBI36
NG_007884.1:g.23186A>C , LRG_384:g.23186A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4353+27A>C (MYH7) MANE Select	ENSP00000347507.3:n.4353+27A>C
ENST00000355349.3:c.4353+27A>C (MYH7)	ENSP00000347507.3:n.4353+27A>C
NM_000257.3:c.4353+27A>C (MYH7)	NP_000248.2:n.4353+27A>C
NR_126491.1:n.814-57T>G (MHRT)
XM_017021340.1:c.4353+27A>C (MYH7)	XP_016876829.1:n.4353+27A>C
NM_000257.4:c.4353+27A>C (MYH7) MANE Select	NP_000248.2:n.4353+27A>C