Canonical Allele Identifier: CA576714459
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs1219154832
gnomAD v2: 7-100244841-C-G
gnomAD v4: 7-100647218-C-G
MyVariant Identifiers: chr7:g.100244841C>G (hg19) chr7:g.100647218C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647218C>G , CM000669.2:g.100647218C>G GRCh38
NC_000007.13:g.100244841C>G , CM000669.1:g.100244841C>G GRCh37
NC_000007.12:g.100082777C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.821+5G>C MANE Select ENSP00000160382.5:n.821+5G>C
ENST00000160382.9:c.821+5G>C ENSP00000160382.5:n.821+5G>C
ENST00000487125.1:n.357+5G>C
NM_016188.4:c.821+5G>C NP_057272.1:n.821+5G>C
XR_927476.1:n.928+5G>C
NR_134539.1:n.928+5G>C
NM_016188.5:c.821+5G>C MANE Select NP_057272.1:n.821+5G>C
NR_134539.2:n.915+5G>C
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