Canonical Allele Identifier: CA415122802
Gene: HCFC1 HGNC NCBI

Linked Data

dbSNP Id: rs2065356120

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153954804G>A , CM000685.2:g.153954804G>A GRCh38
NC_000023.10:g.153220255G>A , CM000685.1:g.153220255G>A GRCh37
NC_000023.9:g.152873449G>A NCBI36
NG_012513.1:g.21565C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310441.12:c.3595C>T MANE Select ENSP00000309555.7:p.Arg1199Trp
ENST00000310441.11:c.3595C>T ENSP00000309555.7:p.Arg1199Trp
ENST00000369984.4:c.3595C>T ENSP00000359001.4:p.Arg1199Trp
NM_005334.2:c.3595C>T NP_005325.2:p.Arg1199Trp
XM_006724815.1:c.3595C>T XP_006724878.1:p.Arg1199Trp
XM_006724816.1:c.3595C>T XP_006724879.1:p.Arg1199Trp
XM_011531144.1:c.3595C>T XP_011529446.1:p.Arg1199Trp
XM_011531145.1:c.3595C>T XP_011529447.1:p.Arg1199Trp
XM_011531146.1:c.3595C>T XP_011529448.1:p.Arg1199Trp
XM_011531147.1:c.3595C>T XP_011529449.1:p.Arg1199Trp
XM_011531148.1:c.3595C>T XP_011529450.1:p.Arg1199Trp
XM_011531149.1:c.3397C>T XP_011529451.1:p.Arg1133Trp
XM_011531150.1:c.2686C>T XP_011529452.1:p.Arg896Trp
XM_006724815.3:c.3595C>T XP_006724878.1:p.Arg1199Trp
XM_006724816.3:c.3595C>T XP_006724879.1:p.Arg1199Trp
XM_011531147.3:c.3595C>T XP_011529449.1:p.Arg1199Trp
XM_011531148.3:c.3595C>T XP_011529450.1:p.Arg1199Trp
XM_017029471.2:c.3397C>T XP_016884960.1:p.Arg1133Trp
XM_017029472.1:c.2686C>T XP_016884961.1:p.Arg896Trp
NM_005334.3:c.3595C>T MANE Select NP_005325.2:p.Arg1199Trp