Canonical Allele Identifier: CA612937348

Gene: MYH7

Linked Data

• dbSNP Id: rs1378049703
• gnomAD v2: 14-23892630-CTAAACA-C
• gnomAD v3: 14-23423421-CTAAACA-C
• gnomAD v4: 14-23423421-CTAAACA-C
• MyVariant Identifiers: chr14:g.23892631_23892636del (hg19) ; chr14:g.23423422_23423427del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23423428_23423433del , CM000676.2:g.23423428_23423433del	GRCh38
NC_000014.8:g.23892637_23892642del , CM000676.1:g.23892637_23892642del	GRCh37
NC_000014.7:g.22962477_22962482del	NCBI36
NG_007884.1:g.17235_17240del , LRG_384:g.17235_17240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3099+120_3099+125del MANE Select	ENSP00000347507.3:n.3099+120_3099+125del
ENST00000355349.3:c.3099+120_3099+125del	ENSP00000347507.3:n.3099+120_3099+125del
NM_000257.3:c.3099+120_3099+125del	NP_000248.2:n.3099+120_3099+125del
XR_245686.3:n.3205+120_3205+125del
XM_017021340.1:c.3099+120_3099+125del	XP_016876829.1:n.3099+120_3099+125del
NM_000257.4:c.3099+120_3099+125del MANE Select	NP_000248.2:n.3099+120_3099+125del