Canonical Allele Identifier: CA649401222

Gene:

Linked Data

• dbSNP Id: rs1213331943
• gnomAD v3: 4-89655701-T-C
• gnomAD v4: 4-89655701-T-C
• COSMIC: COSN6847785
• MyVariant Identifiers: chr4:g.90576852T>C (hg19) ; chr4:g.89655701T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89655701T>C , CM000666.2:g.89655701T>C	GRCh38
NC_000004.11:g.90576852T>C , CM000666.1:g.90576852T>C	GRCh37
NC_000004.10:g.90795875T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_938986.1:n.434+27784T>C
XR_938987.1:n.688+27784T>C
XR_938988.1:n.554+27784T>C
XR_938990.1:n.299-35584T>C
XR_938991.1:n.434+27784T>C
XR_938994.1:n.779+27784T>C
XR_938995.1:n.613+27784T>C
XR_938986.2:n.459+27784T>C
XR_938987.2:n.748+27784T>C