Canonical Allele Identifier: CA220638153

Gene:

Linked Data

• dbSNP Id: rs138483933
• gnomAD v2: 11-34780875-A-C
• gnomAD v3: 11-34759328-A-C
• gnomAD v4: 11-34759328-A-C
• MyVariant Identifiers: chr11:g.34780875A>C (hg19) ; chr11:g.34759328A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34759328A>C , CM000673.2:g.34759328A>C	GRCh38
NC_000011.9:g.34780875A>C , CM000673.1:g.34780875A>C	GRCh37
NC_000011.8:g.34737451A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_428897.2:n.579+4721A>C
XR_931188.1:n.693+4721A>C
XR_931189.1:n.854+4721A>C
XR_931190.1:n.639+4721A>C
XR_931191.1:n.689+4721A>C
XR_001748174.1:n.855+4721A>C
XR_001748176.1:n.1016+4721A>C
XR_002957246.1:n.639+4721A>C