Canonical Allele Identifier: CA107748431
Gene:

Linked Data

dbSNP Id: rs540907505
gnomAD v2: 4-145480452-G-T
gnomAD v3: 4-144559300-G-T
gnomAD v4: 4-144559300-G-T
MyVariant Identifiers: chr4:g.145480452G>T (hg19) chr4:g.144559300G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559300G>T , CM000666.2:g.144559300G>T GRCh38
NC_000004.11:g.145480452G>T , CM000666.1:g.145480452G>T GRCh37
NC_000004.10:g.145699902G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143322C>A ENSP00000497507.1:n.328-143322C>A
XR_939272.1:n.178+2684C>A
XR_939273.1:n.178+2684C>A
XR_939272.2:n.522+2684C>A
XR_939273.2:n.522+2684C>A
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