Canonical Allele Identifier: CA103381289
Gene:

Linked Data

dbSNP Id: rs1006863142
gnomAD v2: 4-106463748-C-T
gnomAD v3: 4-105542591-C-T
gnomAD v4: 4-105542591-C-T
MyVariant Identifiers: chr4:g.106463748C>T (hg19) chr4:g.105542591C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.105542591C>T , CM000666.2:g.105542591C>T GRCh38
NC_000004.11:g.106463748C>T , CM000666.1:g.106463748C>T GRCh37
NC_000004.10:g.106683197C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939038.1:n.414G>A
XR_939039.1:n.574G>A
XR_939040.1:n.296-1115G>A
XR_001741410.1:n.429G>A
XR_001741411.1:n.905G>A
XR_001741412.1:n.429G>A
XR_001741413.1:n.429G>A
XR_001741414.1:n.429G>A
XR_939038.2:n.429G>A
XR_939040.2:n.311-1115G>A
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