Canonical Allele Identifier: CA613317658

Gene: MYH7 MHRT

Linked Data

• dbSNP Id: rs756657320
• gnomAD v2: 14-23885536-G-T
• gnomAD v3: 14-23416327-G-T
• gnomAD v4: 14-23416327-G-T
• MyVariant Identifiers: chr14:g.23885536G>T (hg19) ; chr14:g.23416327G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23416327G>T , CM000676.2:g.23416327G>T	GRCh38
NC_000014.8:g.23885536G>T , CM000676.1:g.23885536G>T	GRCh37
NC_000014.7:g.22955376G>T	NCBI36
NG_007884.1:g.24335C>A , LRG_384:g.24335C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4645-15C>A (MYH7) MANE Select	ENSP00000347507.3:n.4645-15C>A
ENST00000355349.3:c.4645-15C>A (MYH7)	ENSP00000347507.3:n.4645-15C>A
NM_000257.3:c.4645-15C>A (MYH7)	NP_000248.2:n.4645-15C>A
NR_126491.1:n.558+30G>T (MHRT)
XM_017021340.1:c.4645-15C>A (MYH7)	XP_016876829.1:n.4645-15C>A
NM_000257.4:c.4645-15C>A (MYH7) MANE Select	NP_000248.2:n.4645-15C>A