Canonical Allele Identifier: CA10608029

Gene: GJA5

Linked Data

• ClinVar Variation Id: 292458
• ClinVar RCV Id: RCV000295714
• dbSNP Id: rs763234536
• gnomAD v2: 1-147245390-G-A
• gnomAD v3: 1-147773286-G-A
• gnomAD v4: 1-147773286-G-A
• MyVariant Identifiers: chr1:g.147245390G>A (hg19) ; chr1:g.147773286G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147773286G>A , CM000663.2:g.147773286G>A	GRCh38
NC_000001.10:g.147245390G>A , CM000663.1:g.147245390G>A	GRCh37
NC_000001.9:g.145712014G>A	NCBI36
NG_009369.2:g.5089C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000430508.1:c.-68C>T	ENSP00000407645.1:n.-68C>T
ENST00000621517.1:c.-68C>T	ENSP00000484552.1:n.-68C>T
NM_005266.6:c.-68C>T	NP_005257.2:n.-68C>T
XM_005272951.3:c.-34+7381C>T	XP_005273008.1:n.-34+7381C>T
XM_011509415.1:c.-2213C>T	XP_011507717.1:n.-2213C>T
XR_922078.1:n.434-4275G>A
XR_922079.1:n.434-4275G>A
XM_005272951.4:c.-34+7381C>T	XP_005273008.1:n.-34+7381C>T
XM_017001044.1:c.-2054C>T	XP_016856533.1:n.-2054C>T
XR_922079.3:n.744-4275G>A
NM_005266.7:c.-68C>T	NP_005257.2:n.-68C>T