Canonical Allele Identifier: CA704291131

Gene: MYH7

Linked Data

• dbSNP Id: rs1263745197
• MyVariant Identifiers: chr14:g.23892639_23892640insAC (hg19) ; chr14:g.23423430_23423431insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23423434_23423435dup , CM000676.2:g.23423434_23423435dup	GRCh38
NC_000014.8:g.23892643_23892644dup , CM000676.1:g.23892643_23892644dup	GRCh37
NC_000014.7:g.22962483_22962484dup	NCBI36
NG_007884.1:g.17230_17231dup , LRG_384:g.17230_17231dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3099+115_3099+116dup MANE Select	ENSP00000347507.3:n.3099+115_3099+116dup
ENST00000355349.3:c.3099+115_3099+116dup	ENSP00000347507.3:n.3099+115_3099+116dup
NM_000257.3:c.3099+115_3099+116dup	NP_000248.2:n.3099+115_3099+116dup
XR_245686.3:n.3205+115_3205+116dup
XM_017021340.1:c.3099+115_3099+116dup	XP_016876829.1:n.3099+115_3099+116dup
NM_000257.4:c.3099+115_3099+116dup MANE Select	NP_000248.2:n.3099+115_3099+116dup