Canonical Allele Identifier: CA569231236

Gene: FAXC

Linked Data

• dbSNP Id: rs77762345
• gnomAD v2: 6-99782845-C-A
• gnomAD v3: 6-99334969-C-A
• gnomAD v4: 6-99334969-C-A
• MyVariant Identifiers: chr6:g.99782845C>A (hg19) ; chr6:g.99334969C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.99334969C>A , CM000668.2:g.99334969C>A	GRCh38
NC_000006.11:g.99782845C>A , CM000668.1:g.99782845C>A	GRCh37
NC_000006.10:g.99889566C>A	NCBI36
NG_051943.1:g.20342G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389677.6:c.403-1422G>T MANE Select	ENSP00000374328.4:n.403-1422G>T
ENST00000389677.5:c.403-1422G>T	ENSP00000374328.4:n.403-1422G>T
ENST00000480148.1:n.306-1422G>T
ENST00000538471.1:c.-18+7929G>T	ENSP00000445267.1:n.-18+7929G>T
NM_032511.2:c.403-1422G>T	NP_115900.1:n.403-1422G>T
XM_006715581.2:c.244-1422G>T	XP_006715644.1:n.244-1422G>T
XM_011536186.1:c.244-1422G>T	XP_011534488.1:n.244-1422G>T
XM_011536187.1:c.403-1422G>T	XP_011534489.1:n.403-1422G>T
XM_011536188.1:c.40-1422G>T	XP_011534490.1:n.40-1422G>T
XM_011536189.1:c.403-1422G>T	XP_011534491.1:n.403-1422G>T
NM_001346530.1:c.40-1422G>T	NP_001333459.1:n.40-1422G>T
NM_001346531.1:c.244-1422G>T	NP_001333460.1:n.244-1422G>T
NM_001346532.1:c.244-1422G>T	NP_001333461.1:n.244-1422G>T
NM_001346533.1:c.40-1422G>T	NP_001333462.1:n.40-1422G>T
NM_032511.3:c.403-1422G>T	NP_115900.1:n.403-1422G>T
NR_144463.1:n.554-1422G>T
NR_144464.1:n.519-1422G>T
XM_011536189.3:c.403-1422G>T	XP_011534491.1:n.403-1422G>T
NM_032511.4:c.403-1422G>T MANE Select	NP_115900.1:n.403-1422G>T
NM_001346530.2:c.40-1422G>T	NP_001333459.1:n.40-1422G>T
NM_001346531.2:c.244-1422G>T	NP_001333460.1:n.244-1422G>T
NR_144463.2:n.300-1422G>T