Canonical Allele Identifier: CA415103129

Gene: HCFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153950542C>T , CM000685.2:g.153950542C>T	GRCh38
NC_000023.10:g.153215993C>T , CM000685.1:g.153215993C>T	GRCh37
NC_000023.9:g.152869187C>T	NCBI36
NG_012513.1:g.25827G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005334.3:c.5705G>A MANE Select	NP_005325.2:p.Ser1902Asn
ENST00000310441.12:c.5705G>A MANE Select	ENSP00000309555.7:p.Ser1902Asn
NM_005334.2:c.5705G>A	NP_005325.2:p.Ser1902Asn
ENST00000310441.11:c.5705G>A	ENSP00000309555.7:p.Ser1902Asn
ENST00000369984.4:c.5840G>A	ENSP00000359001.4:p.Ser1947Asn
ENST00000444191.5:c.1431G>A
XM_006724815.1:c.5840G>A	XP_006724878.1:p.Ser1947Asn
XM_006724815.3:c.5840G>A	XP_006724878.1:p.Ser1947Asn
XM_006724816.1:c.5837G>A	XP_006724879.1:p.Ser1946Asn
XM_006724816.3:c.5837G>A	XP_006724879.1:p.Ser1946Asn
XM_011531144.1:c.5849G>A	XP_011529446.1:p.Ser1950Asn
XM_011531145.1:c.5846G>A	XP_011529447.1:p.Ser1949Asn
XM_011531146.1:c.5846G>A	XP_011529448.1:p.Ser1949Asn
XM_011531147.1:c.5717G>A	XP_011529449.1:p.Ser1906Asn
XM_011531147.3:c.5717G>A	XP_011529449.1:p.Ser1906Asn
XM_011531148.1:c.5714G>A	XP_011529450.1:p.Ser1905Asn
XM_011531148.3:c.5714G>A	XP_011529450.1:p.Ser1905Asn
XM_011531149.1:c.5651G>A	XP_011529451.1:p.Ser1884Asn
XM_011531150.1:c.4940G>A	XP_011529452.1:p.Ser1647Asn
XM_017029471.2:c.5639G>A	XP_016884960.1:p.Ser1880Asn
XM_017029472.1:c.4928G>A	XP_016884961.1:p.Ser1643Asn