Canonical Allele Identifier: CA107748422
Gene:

Linked Data

dbSNP Id: rs978269182
gnomAD v3: 4-144559287-G-C
gnomAD v4: 4-144559287-G-C
MyVariant Identifiers: chr4:g.145480439G>C (hg19) chr4:g.144559287G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559287G>C , CM000666.2:g.144559287G>C GRCh38
NC_000004.11:g.145480439G>C , CM000666.1:g.145480439G>C GRCh37
NC_000004.10:g.145699889G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143309C>G ENSP00000497507.1:n.328-143309C>G
XR_939272.1:n.178+2697C>G
XR_939273.1:n.178+2697C>G
XR_939272.2:n.522+2697C>G
XR_939273.2:n.522+2697C>G
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