Canonical Allele Identifier: CA834053658
Gene: KIAA1549 HGNC NCBI

Linked Data

dbSNP Id: rs1993068
gnomAD v3: 7-138856405-C-G
gnomAD v4: 7-138856405-C-G
MyVariant Identifiers: chr7:g.138541151C>G (hg19) chr7:g.138856405C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138856405C>G , CM000669.2:g.138856405C>G GRCh38
NC_000007.13:g.138541151C>G , CM000669.1:g.138541151C>G GRCh37
NC_000007.12:g.138191691C>G NCBI36
NG_032965.1:g.129914G>C
NG_032965.2:g.129914G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000422774.2:c.5248-4136G>C MANE Select ENSP00000416040.2:n.5248-4136G>C
ENST00000422774.1:c.5248-4136G>C ENSP00000416040.1:n.5248-4136G>C
ENST00000440172.5:c.5248-4136G>C ENSP00000406661.1:n.5248-4136G>C
NM_001164665.1:c.5248-4136G>C NP_001158137.1:n.5248-4136G>C
NM_020910.2:c.5248-4136G>C NP_065961.2:n.5248-4136G>C
XM_011516442.1:c.5167-4136G>C XP_011514744.1:n.5167-4136G>C
XM_011516442.2:c.5167-4136G>C XP_011514744.1:n.5167-4136G>C
NM_001164665.2:c.5248-4136G>C MANE Select NP_001158137.1:n.5248-4136G>C
NM_020910.3:c.5248-4136G>C NP_065961.2:n.5248-4136G>C
Search 100 bp 5'
Search 100 bp 3'