Canonical Allele Identifier: CA339322570

Gene: GJA4 SMIM12

Linked Data

• dbSNP Id: rs1640244593
• gnomAD v3: 1-34794454-C-T
• gnomAD v4: 1-34794454-C-T
• MyVariant Identifiers: chr1:g.35260055C>T (hg19) ; chr1:g.34794454C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794454C>T , CM000663.2:g.34794454C>T	GRCh38
NC_000001.10:g.35260055C>T , CM000663.1:g.35260055C>T	GRCh37
NC_000001.9:g.35032642C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.241C>T (GJA4) MANE Select	ENSP00000343676.4:p.Gln81Ter
ENST00000342280.4:c.241C>T (GJA4)	ENSP00000343676.4:p.Gln81Ter
ENST00000426886.1:c.207+61317G>A (SMIM12)	ENSP00000429902.1:n.207+61317G>A
ENST00000450137.1:c.241C>T (GJA4)	ENSP00000409186.1:p.Gln81Ter
NM_002060.2:c.241C>T (GJA4)	NP_002051.2:p.Gln81Ter
XM_005270750.1:c.241C>T (GJA4)	XP_005270807.1:p.Gln81Ter
XR_947179.1:n.1001+3917G>A
XM_005270750.2:c.241C>T (GJA4)	XP_005270807.1:p.Gln81Ter
XM_017001043.2:c.241C>T (GJA4)	XP_016856532.1:p.Gln81Ter
XR_001737967.1:n.1023+3917G>A
NM_002060.3:c.241C>T (GJA4) MANE Select	NP_002051.2:p.Gln81Ter