Canonical Allele Identifier: CA415122743
Gene: HCFC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1448986
dbSNP Id: rs1439756712

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153954795C>T , CM000685.2:g.153954795C>T GRCh38
NC_000023.10:g.153220246C>T , CM000685.1:g.153220246C>T GRCh37
NC_000023.9:g.152873440C>T NCBI36
NG_012513.1:g.21574G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310441.12:c.3604G>A MANE Select ENSP00000309555.7:p.Gly1202Arg
ENST00000310441.11:c.3604G>A ENSP00000309555.7:p.Gly1202Arg
ENST00000369984.4:c.3604G>A ENSP00000359001.4:p.Gly1202Arg
NM_005334.2:c.3604G>A NP_005325.2:p.Gly1202Arg
XM_006724815.1:c.3604G>A XP_006724878.1:p.Gly1202Arg
XM_006724816.1:c.3604G>A XP_006724879.1:p.Gly1202Arg
XM_011531144.1:c.3604G>A XP_011529446.1:p.Gly1202Arg
XM_011531145.1:c.3604G>A XP_011529447.1:p.Gly1202Arg
XM_011531146.1:c.3604G>A XP_011529448.1:p.Gly1202Arg
XM_011531147.1:c.3604G>A XP_011529449.1:p.Gly1202Arg
XM_011531148.1:c.3604G>A XP_011529450.1:p.Gly1202Arg
XM_011531149.1:c.3406G>A XP_011529451.1:p.Gly1136Arg
XM_011531150.1:c.2695G>A XP_011529452.1:p.Gly899Arg
XM_006724815.3:c.3604G>A XP_006724878.1:p.Gly1202Arg
XM_006724816.3:c.3604G>A XP_006724879.1:p.Gly1202Arg
XM_011531147.3:c.3604G>A XP_011529449.1:p.Gly1202Arg
XM_011531148.3:c.3604G>A XP_011529450.1:p.Gly1202Arg
XM_017029471.2:c.3406G>A XP_016884960.1:p.Gly1136Arg
XM_017029472.1:c.2695G>A XP_016884961.1:p.Gly899Arg
NM_005334.3:c.3604G>A MANE Select NP_005325.2:p.Gly1202Arg