Canonical Allele Identifier: CA380321996
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47361321C>G (hg19) chr11:g.47339770C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339770C>G , CM000673.2:g.47339770C>G GRCh38
NC_000011.9:g.47361321C>G , CM000673.1:g.47361321C>G GRCh37
NC_000011.8:g.47317897C>G NCBI36
NG_007667.1:g.17933G>C , LRG_386:g.17933G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1948G>C MANE Select ENSP00000442795.1:p.Asp650His
ENST00000256993.8:c.1948G>C ENSP00000256993.5:p.Asp650His
ENST00000399249.6:c.1948G>C ENSP00000382193.2:p.Asp650His
ENST00000544791.1:c.1948G>C ENSP00000444259.1:p.Asp650His
ENST00000545968.5:c.1948G>C ENSP00000442795.1:p.Asp650His
NM_000256.3:c.1948G>C , LRG_386t1:c.1948G>C MANE Select NP_000247.2:p.Asp650His
XM_011520117.1:c.1930G>C XP_011518419.1:p.Asp644His
XM_011520118.1:c.1948G>C XP_011518420.1:p.Asp650His
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