Canonical Allele Identifier: CA645289624

Gene: HCFC1

Linked Data

• dbSNP Id: rs1557113908
• gnomAD v2: X-153220007-G-GTT
• gnomAD v3: X-153954556-G-GTT
• gnomAD v4: X-153954556-G-GTT
• MyVariant Identifiers: chrX:g.153220007_153220008insTT (hg19) ; chrX:g.153954556_153954557insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153954556_153954557insTT , CM000685.2:g.153954556_153954557insTT	GRCh38
NC_000023.10:g.153220007_153220008insTT , CM000685.1:g.153220007_153220008insTT	GRCh37
NC_000023.9:g.152873201_152873202insTT	NCBI36
NG_012513.1:g.21812_21813insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310441.12:c.3842_3843insAA MANE Select	ENSP00000309555.7:p.Ser1282ThrfsTer5
ENST00000310441.11:c.3842_3843insAA	ENSP00000309555.7:p.Ser1282ThrfsTer5
ENST00000369984.4:c.3842_3843insAA	ENSP00000359001.4:p.Ser1282ThrfsTer5
NM_005334.2:c.3842_3843insAA	NP_005325.2:p.Ser1282ThrfsTer5
XM_006724815.1:c.3842_3843insAA	XP_006724878.1:p.Ser1282ThrfsTer5
XM_006724816.1:c.3842_3843insAA	XP_006724879.1:p.Ser1282ThrfsTer5
XM_011531144.1:c.3842_3843insAA	XP_011529446.1:p.Ser1282ThrfsTer5
XM_011531145.1:c.3842_3843insAA	XP_011529447.1:p.Ser1282ThrfsTer5
XM_011531146.1:c.3842_3843insAA	XP_011529448.1:p.Ser1282ThrfsTer5
XM_011531147.1:c.3842_3843insAA	XP_011529449.1:p.Ser1282ThrfsTer5
XM_011531148.1:c.3842_3843insAA	XP_011529450.1:p.Ser1282ThrfsTer5
XM_011531149.1:c.3644_3645insAA	XP_011529451.1:p.Ser1216ThrfsTer5
XM_011531150.1:c.2933_2934insAA	XP_011529452.1:p.Ser979ThrfsTer5
XM_006724815.3:c.3842_3843insAA	XP_006724878.1:p.Ser1282ThrfsTer5
XM_006724816.3:c.3842_3843insAA	XP_006724879.1:p.Ser1282ThrfsTer5
XM_011531147.3:c.3842_3843insAA	XP_011529449.1:p.Ser1282ThrfsTer5
XM_011531148.3:c.3842_3843insAA	XP_011529450.1:p.Ser1282ThrfsTer5
XM_017029471.2:c.3644_3645insAA	XP_016884960.1:p.Ser1216ThrfsTer5
XM_017029472.1:c.2933_2934insAA	XP_016884961.1:p.Ser979ThrfsTer5
NM_005334.3:c.3842_3843insAA MANE Select	NP_005325.2:p.Ser1282ThrfsTer5