Canonical Allele Identifier: CA12485223

Gene: KIAA1549

Linked Data

• dbSNP Id: rs1993068
• gnomAD v2: 7-138541151-C-A
• gnomAD v3: 7-138856405-C-A
• gnomAD v4: 7-138856405-C-A
• MyVariant Identifiers: chr7:g.138541151C>A (hg19) ; chr7:g.138856405C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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