Canonical Allele Identifier: CA107748382
Gene:

Linked Data

dbSNP Id: rs115971393
gnomAD v2: 4-145480359-G-A
gnomAD v3: 4-144559207-G-A
gnomAD v4: 4-144559207-G-A
MyVariant Identifiers: chr4:g.145480359G>A (hg19) chr4:g.144559207G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559207G>A , CM000666.2:g.144559207G>A GRCh38
NC_000004.11:g.145480359G>A , CM000666.1:g.145480359G>A GRCh37
NC_000004.10:g.145699809G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143229C>T ENSP00000497507.1:n.328-143229C>T
XR_939272.1:n.178+2777C>T
XR_939273.1:n.178+2777C>T
XR_939272.2:n.522+2777C>T
XR_939273.2:n.522+2777C>T
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