Canonical Allele Identifier: CA389040269

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417582A>T , CM000676.2:g.23417582A>T GRCh38
NC_000014.8:g.23886791A>T , CM000676.1:g.23886791A>T GRCh37
NC_000014.7:g.22956631A>T NCBI36
NG_007884.1:g.23080T>A , LRG_384:g.23080T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4274T>A (MYH7) MANE Select ENSP00000347507.3:p.Ile1425Asn
ENST00000355349.3:c.4274T>A (MYH7) ENSP00000347507.3:p.Ile1425Asn
NM_000257.3:c.4274T>A (MYH7) NP_000248.2:p.Ile1425Asn
NR_126491.1:n.863A>T (MHRT)
XM_017021340.1:c.4274T>A (MYH7) XP_016876829.1:p.Ile1425Asn
NM_000257.4:c.4274T>A (MYH7) MANE Select NP_000248.2:p.Ile1425Asn